Abstract
The neural crest is a temporary embryonic structure that is composed of a population of multipotent cells that delaminate from the ectoderm by epitheliomesenchymal transformation (Sect. 5.2). Neural crest derivatives contribute to a large number of structures, including the spinal, cranial and autonomic ganglia, the enteric nervous system, the medulla of the adrenal gland, the melanocytes, dermal cells, corneal cells and many of the skeletal and connective tissues of the head (Sect. 5.3). The whole facial and visceral skeleton and part of the neurocranium are formed from the neural crest (Sect. 5.4).
A number of craniofacial malformations have major neural crest involvement, and are usually referred to as neurocristopathies (Sect. 5.5). Under this heading, the retinoic acid syndrome, the oculoauriculo-vertebral spectrum, Treacher Collins syndrome, the DiGeorge sequence and Waardenburg syndrome are discussed. A group of craniofacial disorders are the result of defects in primary cilia. These ciliopathies include Bardet-Biedl, Meckel-Gruber and Joubert syndromes (Sect. 5.6). Holoprosencephaly is an early disorder of pattern formation that may lead to closely related forebrain and facial malformations (Sect. 5.7). Abnormal development of the skull leading to craniosynostoses, craniofacial malformations due to agenesis or premature ossification of the cranial sutures, are discussed in Sect. 5.8. Several Clinical cases illustrate these disorders.
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References
Abu-Issa R, Smyth G, Smoak I, Yamamura K, Meyers EN (2002) Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development 129:4613–4625
Acampora D, Mazan S, Lallemand Y, Avantaggiato V, Maury M, Simeone A, Brûlet P (1995) Forebrain and midbrain regions are deleted in Otx2−/− mutants due to a defective anterior neuroectoderm specification during gastrulation. Development 121:3279–3290
Acampora D, Avantaggiato V, Tuorte F, Briata P, Corte G, Simeone A (1998) Visceral endoderm-restricted translation of Otx1 mediates recovery of Otx2 requirements for specification of anterior neural plate and normal gastrulation. Development 125:5091–5104
Acampora D, Merlo GR, Paleari L, Zerega B, Postiglione MP, Mantero S et al (1999) Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5. Development 126:3795–3809
Acloque H, Adams MS, Fishwick K, Bronner-Fraser M, Nieto MA (2009) Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease. J Clin Invest 119:1438–1449
Adelmann HB (1925) The development of the neural folds and cranial ganglia in the rat. J Comp Neurol 39:19–171
Adelmann HB (1936) The problem of cyclopia. Q Rev Biol 11:116–182, and 284–304
Ahlgren SC, Bronner-Fraser M (1999) Inhibition of sonic hedgehog signaling in vivo results in craniofacial neural crest cell death. Curr Biol 9:1304–1314
Aicardi J (1998) Diseases of the nervous system in childhood, 2nd edn. Mac Keith, London
Aleksic S, Budzilovich G, Greco MA, McCarthy J, Reuben R, Margolis S et al (1984) Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome). Childs Brain 11:285–297
Alexander T, Nolte C, Krumlauf R (2009) Hox genes and segmentation of the hindbrain and axial skeleton. Annu Rec Cell Dev Biol 25:431–456
Anson BJ, Bast TH, Cauldwell EW (1948) The development of the auditory ossicles, the otic capsule and the extracapsular tissues. Ann Otol Rhinol Laryngol 57:603–632
Anson BJ, Hanson JS, Richany SF (1960) Early embryology of the auditory ossicles and associated structures in relation to certain anomalies observed clinically. Ann Otol Rhinol Laryngol 69:427–447
Apert E (1906) De l’acrocéphalosyndactylie. Bull Soc Méd (Paris) 23:1310–1330
Aybar MJ, Mayor R (2002) Early induction of neural crest cells: lessons learned from frog, fish and chick. Curr Opin Genet Dev 12:452–458
Aybar MJ, Nieto MA, Mayor R (2003) Snail precedes Slug in the genetic cascade required for the specification and migration of Xenopus neural crest. Development 130:483–494
Bachiller D, Klingensmith J, Shneyder N, Tran U, Anderson R, Rossant J, De Robertis EM (2003) The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome. Development 130:3567–3578
Badano JL, Mitsuma N, Beales PL, Katsanis N (2006) The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 7:125–148
Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J et al (2010) CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature 463:958–962
Barber BA, Rastegar M (2010) Epigenetic control of Hox genes during neurogenesis, development, and disease. Ann Anat 192:261–274
Bardeen R (1910) Die Entwicklung des Schädels, des Zungenbeins und des Kehlkopfskeletts. In: Keibel F, Mall FP (eds) Handbuch der Entwicklungsgeschichte des Menschen. I. Band. Hirzel, Leipzig, pp 402–456
Bartelmez GW, Blount MP (1954) The formation of neural crest from the primary optic vesicle in man. Contrib Embryol Carnegie Inst 35:55–91
Basch ML, Bronner-Fraser M, Garcia-Castro ML (2006) Specification of the neural crest occurs during gastrulation and requires Pax7. Nature 441:218–222
Batten EH (1958) The origin of the acoustic ganglion in the sheep. J Embryol Exp Morphol 6:597–615
Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36:437–446
Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A et al (1996) Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 14:353–356
Bendavid C, Dupé V, Rochard L, Gicquel I, Dubourg C, David V (2010) Holoprosencephaly: an update on cytogenetic abnormalities. Am J Med Genet C 154C:86–92
Berry SM, Gosden C, Snijders RJM, Nicolaides KH (1990) Fetal holoprosencephaly. Associated malformations and chromosomal defects. Fetal Diagn Ther 5:92–99
Beverdam A, Brouwer A, Reijnen M, Korving J, Meijlink F (2001) Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice. Development 128:3975–3986
Bixler D, Ward R, Gale DD (1985) Agnathia-holoprosencephaly: a developmental field complex involving face and brain. Report of 3 cases. J Craniofac Genet Dev Biol Suppl 1:241–249
Blaas H-GK, Eik-Nes SH, Vainio T, Isaksen CV (2000) Alobar holoprosencephaly at 9 weeks gestational age visualized by two- and three-dimensional ultrasound. Ultrasound Obstet Gynecol 15:62–65
Blaas H-GK, Eriksson AG, Salvesen KÅ, Isaksen CV, Christensen B, Møllerløkken G, Eik-Nes SH (2002) Brains and faces in holoprosencephaly: pre-and postnatal description of 30 cases. Ultrasound Obstet Gynecol 19:24–38
Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, David DJ et al (2009) Rare mutations of FGFR2 causing Apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat 30:204–211
Bockman DE, Redmond M, Kirby ML (1989) Alteration of early vascular development after ablation of cranial neural crest. Anat Rec 225:209–217
Bolande RP (1974) The neurocristopathies: a unifying concept of disease arising in neural crest development. Hum Pathol 4:409–429
Boshart L, Vlot EA, Vermeij-Keers C (2000) Epithelio-mesenchymal transformation in the embryonic face: implications for craniofacial malformations. Eur J Plast Surg 23:217–223
Bovolenta P, Mallamaci A, Boncinelli E (1996) Cloning and characterization of two chick homeobox genes, members of the Six/sine oculis family, expressed during eye development. Int J Dev Biol 1(Suppl):738–748
Bronner ME, Le Douarin NM (2012) Development and evolution of the neural crest: an overview. Dev Biol 366:2–9
Brown SA, Warburton D, Brown LY, Yu C, Roeder ER, Stengel-Rutkowski S et al (1998) Holoprosencephaly due to mutation in ZIC2, a homologue of Drosophila odd-paired. Nat Genet 20:180–183
Brugmann SA, Cordero DR, Helms JL (2010) Craniofacial ciliopathies: a new classification for craniofacial disorders. Am J Med Genet A 152A:2995–3006
Bull JS, Nixon WL, Pratt RT (1955) Radiological criteria and familial occurrence of primary basilar impression. Brain 78:229–247
Bush JO, Jiang R (2012) Palatogenesis: morphogenetic and molecular mechanisms of secondary palate development. Development 139:231–243
Cano A, Perez-Moreno MA, Rodrigo I, Locascio A, Blanco MJ, del Barrio MG et al (2000) The transcription factor snail controls epithelial-mesenchymal transitions by repressing E cadherin expression. Nat Cell Biol 2:78–83
Capecchi MR (1997) The role of Hox genes in hindbrain development. In: Cowan WM, Jessell TM, Zipursky SL (eds) Molecular and cellular approaches to neural development. Oxford University Press, New York, pp 334–355
Cargile CB, McIntosh I, Clough MV, Rutberg J, Yaghmai R, Goodman BK et al (2000) Delayed membranous ossification of the cranium associated with familial translocation (2;3) (p15;q12). Am J Med Genet 92:328–335
Celik T, Simsek PO, Sozen T, Ozyuncu O, Utine GE, Talim B et al (2012) PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents. Clin Genet 81:294–297
Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W et al (2012) OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet 49:373–379
Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA (1996) Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383:407–413
Chisaka O, Capecchi MR (1991) Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene Hox-1.5. Nature 350:473–479
Chotzen F (1932) Eine eigenartige familiäre Entwicklungsstörung (Akrocephalosyndactylie, Dysostosis craniofacialis und Hypertelorismus). Monatsschr Kinderheilk 55:97–122
Cohen MM Jr (1979) Craniofrontonasal dysplasia. Birth Defects 15:85–89
Cohen MM Jr (1989a) Perspectives on holoprosencephaly: part I. Epidemiology, genetics, and syndromology. Teratology 40:211–235
Cohen MM Jr (1989b) Perspectives on holoprosencephaly: part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271–288
Cohen MM Jr (1993) Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 45:300–307
Cohen MM Jr (2002) Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives. Am J Med Genet 115:245–268
Cohen MM Jr, Kreiborg S (1990) The central nervous system in the Apert syndrome. Am J Med Genet 35:36–45
Cohen MM Jr, Kreiborg S (1993) An updated pediatric perspective on the Apert syndrome. Am J Dis Child 147:989–993
Cohen MM Jr, Kreiborg S (1995) Hands and feet in the Apert syndrome. Am J Med Genet 57:82–96
Cohen MM Jr, MacLean RE (eds) (2000) Craniosynostosis: diagnosis, evaluation, and management, 2nd edn. Oxford University Press, New York
Cohen MM Jr, Shiota K (2002) Teratogenesis of holoprosencephaly. Am J Med Genet 109:1–15
Cohen MM Jr, Sulik KK (1992) Perspectives on holoprosencephaly: part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J Craniofac Genet Dev Biol 12:196–244
Comijn J, Brex G, Vermassen P, Verschueren K, van Grunsven L, Bruyneel E et al (2001) The two-handed E box binding zinc finger proptein SIP1 downregulates E-cadherin and induces invasion. Mol Cell 7:1267–1278
Condie BG, Capecchi MR (1994) Mice with targeted disruptions in the paralogous genes hoxa-3 and hoxd-3 reveal synergistic interactions. Nature 370:304–307
Conley ME, Beckwith JB, Mancer JFK, Tenckhoff L (1979) The spectrum of the DiGeorge syndrome. J Pediatr 94:883–890
Cordero DR, Brugmann S, Chu Y, Bajpai R, Jame M, Helms JA (2011) Cranial neural crest cells on the move: their roles in craniofacial development. Am J Med Genet A 155A:270–279
Coria F, Quintana F, Rebollo M, Combarras O, Berciano J (1983) Occipital dysplasia and Chiari type I deformity in a family. Clinical and radiological study of three generations. J Neurol Sci 62:147–158
Couly GF, Le Douarin NM (1985) Mapping of the early neural primordium in quail-chick chimeras. I. Developmental relationships between placodes, facial ectoderm, and prosencephalon. Dev Biol 110:422–439
Couly GF, Le Douarin NM (1987) Mapping of the early neural primordium in quail-chick chimeras. II. The prosencephalic neural plate and neural folds: implications for the genesis of cephalic human congenital abnormalities. Dev Biol 120:198–214
Couly GF, Le Douarin NM (1988) The fate map of the cephalic neural primordium at the presomitic to the 3-somite stage in the avian embryo. Development (Suppl) 103:101–113
Couly GF, Le Douarin NM (1990) Head morphogenesis in embryonic avian chimeras: evidence for a segmental pattern in the ectoderm corresponding to the neuromeres. Development 108:543–558
Couly GF, Coltey PM, Le Douarin NM (1992) The developmental fate of the cephalic mesoderm in quail-chick chimeras. Development 114:1–15
Couly GF, Coltey PM, Le Douarin NM (1993) The triple origin of skull in higher vertebrates: a study in quail-chick chimeras. Development 117:409–429
Couly G, Grapin-Bottom A, Coltey PM, Ruhin B, Le Douarin NM (1998) Determination of the identity of the derivatives of the cephalic neural crest: incompatibility between Hox gene expression and lower jaw development. Development 125:3445–3459
Couly G, Creuzet S, Bennaceur S, Vincent C, Le Douarin NM (2002) Interactions between Hox-negative cephalic neural crest cells and the foregut endoderm in patterning the facial skeleton in the vertebrate haed. Development 129:1061–1073
Cousley RRJ, Calvert ML (1997) Current concepts in the understanding of hemifacial microsomia. Br J Plast Surg 50:536–551
Creuzet S, Couly G, Vincent C, Le Douarin NM (2002) Negative effect of Hox gene expression on the development of the neural crest-derived facial skeleton. Development 129:4301–4313
Creuzet S, Schuler B, Couly G, Le Douarin NM (2004) Reciprocal relationships between Fgf8 and neural crest cells in facial and forebrain development. Proc Natl Acad Sci U S A 101:4843–4847
Creuzet S, Couly G, Le Douarin NM (2005) Patterning the neural crest derivatives during development of the vertebrate head: insights from avian studies. Proc Natl Acad Sci U S A 103:14033–14038
Croen LA, Shaw GM, Lammer EJ (1996) Holoprosencephaly: epidemiologic and clinical characterists of a California population. Am J Med Genet 64:465–472
Crouzon O (1912) Dysostose craniofaciale héréditaire. Bull Med Soc Med Hôp (Paris) 33:545–555
D’Amico-Martel A, Noden DM (1983) Contributions of placodal and neural crest cells to avian cranial peripheral ganglia. Am J Anat 66:445–468
Daft PA, Johnston MC, Sulik KK (1986) Abnormal heart and great vessel development following acute ethanol exposure in mice. Teratology 33:93–104
Dassot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat 28:313–321
de Heer IM, Hoogeboom AJM, Eussen HJ, Vaandrager JM, de Klein A (2004) Deletion of the TWIST gene in a large five-generation family. Clin Genet 65:396–399
de Jong T, Bannink N, Bredero-Boelhouwer HH, Van Veelen ML, Bartels MC, Hoeve LJ et al (2009) Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile. J Plast Reconstr Aesthet Surg 63:1635–1641
DeMyer WE (1967) The median-cleft syndrome. Differential diagnosis of cranium bifidum occultum, hypertelorism, and median cleft nose, lip, and palate. Neurology 17:961–971
DeMyer WE, Zeman W, Palmer CG (1963) Familial holoprosencephaly (arhinencephaly) with median cleft palate. Neurology 13:913–918
DeMyer WE, Zeman W, Palmer CG (1964) The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 34:256–263
Depew MJ, Simpson CA, Morallo M, Rubinstein JLR (2005) Reassessing the Dlx code: the genetic regulation of branchial arch skeletal pattern and development. J Anat (Lond) 207:501–561
DiGeorge AM (1965) Discussion on a new concept of the cellular basis of immunology. J Pediatr 67:907
Dixon MJ, Marres HAM, Edwards SJ, Dixon J, Cremers CWRJ (1994) Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clin Dysmorphol 3:96–103
Dixon J, Hovanes K, Shiang R, Dixon MJ (1997) Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. Hum Mol Genet 6:727–737
Dixon J, Brakebusch C, Fässler R, Dixon MJ (2000) Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Hum Mol Genet 9:1473–1480
Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ, Trainor PA (2006) Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A 103:13403–13408
Dixon J, Trainor PA, Dixon MJ (2007) Treacher Collins syndrome. Orthod Craniofac Res 10:88–95
Dixon MJ, Marazita ML, Beaty TH, Murray JC (2011) Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 12:167–178
Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI et al (2008) Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Hum Mol Genet 17:3919–3928
Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS (1989) Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am J Med Genet 32:461–467
Driscoll DA, Burdoff ML, Emanuel BS (1992a) A genetic etiology for the DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 50:924–933
Driscoll DA, Spinner ND, Burdoff ML (1992b) Deletions and microdeletions of 22q11.2 in velo-cardiofacial syndrome. Am J Med Genet 44:261–268
Duband JL, Monier F, Delannet M, Newgreen D (1995) Epithelium-mesenchyme transition during neural cell development. Acta Anat (Basel) 154:63–78
Duhamel B (1966) Morphogenèse Pathologique. Masson, Paris
Dupin E, Coelho-Aguiar JM (2013) Isolation and differentiation properties of neural crest stem cells. Cytometry A 83A:38–47
Durbec PL, Larsson-Blomberg LB, Schuchardt A, Constantini F, Pachnis V (1996) Common origin and developmental dependence on c-ret of subsets of enteric and sympathetic neuroblasts. Development 122:349–358
Eagleson GW, Harris WA (1990) Mapping of the presumptive brain regions in the neural plate of Xenopus laevis. J Neurobiol 21:427–440
Eagleson HW, Ferreiro B, Harris WA (1995) Fate of the anterior neural ridge and the morphogenesis of the Xenopus brain. J Neurobiol 28:146–158
El Ghouzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D et al (1997) Mutations in the TWIST gene in Saethre-Chotzen syndrome. Nat Genet 15:42–46
El-Jaick KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM et al (2007) Functional analysis of mutations in TG1F associated with holoprosencephaly. Mol Genet Metab 90:97–111
Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH (2001) The 22q11.2 deletion syndrome. Adv Pediatr 48:39–73
Etchevers HC, Vincent C, Le Douarin NM, Couly GF (2001) The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain. Development 128:1059–1068
Etchevers HC, Amiel J, Lyonnet S (2006) Molecular basis of human neurocristopathies. Adv Exp Med Biol 589:213–234
Evrard L, Vanmuylder N, Dourov N, Hermans C, Biermans J, Werry-Huet A, Rooze M, Louryan S (2000) Correlation of HSP110 expression with all-trans retinoic acid-induced apoptosis. J Craniofac Genet Dev Biol 20:183–192
Favier B, Dollé P (1997) Developmental functions of mammalian Hox genes. Mol Hum Reprod 3:115–131
Ferrante MI, Giorgio G, Feather SA, Dulfone A, Wright V, Ghiani M et al (2001) Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 68:569–576
Ferrante MI, Zullo A, Barra A, Bimonte S, Messadeq N, Studer M et al (2006) Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet 38:112–117
Ferrante MI, Romio L, Castro S, Collin JE, Goulding DA, Stemple DL et al (2009) Convergent extension movements and ciliary function are mediated by odf1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene. Hum Mol Genet 18:289–303
Florisson JMG, Van Veelen MLC, Bannink N, Van Adrichem LNA, Van der Meulen JJNM, Bartels MC, Mathijssen IM (2010) Papilledema in isolated single-suture craniosynostosis: prevalence and predictive factors. J Craniofac Surg 21:20–24
Franceschetti A, Klein D (1949) Mandibulo-facial dysostosis: new hereditary syndrome. Acta Ophthalmol 27:144–224
Francis-West PH, Robson L, Evans DJR (2003) Craniofacial development: the tissue and molecular interactions that control development of the head. Adv Anat Embryol Cell Biol 169:1–144
Frank DU, Fotheringham LK, Brewer JA, Muglia LJ, Tristani-Firouzi M, Capecchi MR, Moon AM (2002) An Fgfg8 mouse mutant phenocopies human 22q11 deletion syndrome. Development 129:4591–4603
Furness JB, Costa M (1987) The enteric nervous system. Churchill Livingstone, Edinburgh
Gammill LS, Bronner-Fraser M (2003) Neural crest specification: migrating into genomics. Nat Rev Neurosci 4:795–805
Gasser RF (2006) Evidence that some events of mammalian embryogenesis can result from differential growth, making migration unnecessary. Anat Rec B 289B:53–63
Gault DT, Renier D, Marchac D, Jones BM (1992) Intracranial pressure and intracranial volume in children with craniosynostosis. Plast Reconstr Surg 90:377–381
Geelen JAG, Langman J (1977) Closure of the neural tube in the cephalic region of the mouse embryo. Anat Rec 189:625–640
Gendron-Maguire M, Mallo M, Zhang M, Gridley T (1993) Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest. Cell 75:1317–1331
Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L et al (2000) Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 66:768–777
Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ (1993) Velocardiofacial syndrome. A review of 120 patients. Am J Med Genet 45:313–319
Golden JA (1998) Holoprosencephaly: a defect in brain patterning. J Neuropathol Exp Neurol 57:991–999
Golden JA, Chernoff GF (1993) Intermittent pattern of neural tube closure in two strains of mice. Teratology 47:73–80
Golden JA, Chernoff GF (1995) Multiple sites of anterior neural tube closure in humans: evidence from anterior neural tube defects (anencephaly). Pediatrics 95:506–510
Golding J, Trainor P, Krumlauf R, Gassman M (2000) Defects in pathfinding by cranial neural crest cells in mice lacking the Neuregulin receptor ErbB4. Nat Cell Biol 2:103–109
Goriely A, Wilkie AOM (2012) Paternal age effects mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet 90:175–200
Gorlin RJ, Cohen MM Jr, Hennekam RCM (eds) (2001) Syndromes of the head and neck, 4th edn. Oxford University Press, Oxford
Goulding EH, Pratt RM (1986) Isotretinoin teratogenicity in mouse whole embryo culture. J Craniofac Genet Dev Biol 6:99–112
Graham A, Begbie J (2000) Neurogenic placodes: a common front. Trends Neurosci 23:313–316
Graham A, Shimeld SM (2013) The origin and evolution of the ectodermal placodes. J Anat (Lond) 222:32–40
Graham A, Smith A (2001) Patterning the pharyngeal arches. Bioessays 23:54–61
Graham A, Heyman I, Lumsden A (1993) Even-numbered rhombomeres control the apoptotic elimination of neural crest cells from odd-numbered rhombomeres in the chick hindbrain. Development 119:233–245
Graham A, Francis-West P, Brickell P, Lumsden A (1994) The signalling molecule BMP4 mediates apoptosis in the rhombencephalic neural crest. Nature 372:684–686
Graham A, Begbie J, McGonnell I (2004) Significance of the cranial neural crest. Dev Dyn 229:5–13
Graham A, Okabe M, Quinlan R (2005) The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (Lond) 207:479–487
Graw J (2010) Eye development. Curr Top Dev Biol 90:343–386
Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P et al (2000) Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet 25:205–208
Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC et al (1980) Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly: a new syndrome? I. Clinical, causal, and pathogenetic considerations. Am J Med Genet 7:47–74
Hanson JR, Anson BJ, Strickland EM (1962) Branchial sources of the auditory ossicles in man. Arch Otolaryngol 76:100–122, and 200–215
Harville EW, Wilcox AJ, Lie RT, Vindemes H, Abyholm F (2005) Cleft lip and palate versus cleft lip only: are they distinct defects? Am J Epidemiol 162:448–453
Hatta K, Kimmel CB, Ho RK (1991) The cyclops mutation blocks specification on the floor plate of the zebrafish central nervous system. Nature 350:339–341
Hatta K, Puschel AW, Kimmel CB (1994) Midline signaling in the primordium of the zebrafish anterior CNS. Proc Natl Acad Sci U S A 91:2061–2065
Hay ED (1995) An overview of epithelio-mesenchymal transformation. Acta Anat (Basel) 154:8–20
Heaton ND, Garrett JR, Howard ER (1988) The enteric nervous system. In: Bannister R (ed) Autonomic failure. A textbook of clinical disorders of the autonomic nervous system, 2nd edn. Oxford University Press, Oxford, pp 238–263
Helms JA, Kim CH, Hu D, Minkoff R, Thaller C, Eichele G (1997) Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid. Dev Biol 187:25–35
Hide T, Hatakeyama J, Kimura-Yoshida C, Tian E, Takeda N, Ushio Y et al (2002) Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice. Development 129:4347–4357
Hinrichsen K (1985) The early development of morphology and patterns of the face in the human embryo. Adv Anat Embryol Cell Biol 98:1–79
Hinrichsen KV (1990) Gesichtsentwicklung. In: Hinrichsen KV (ed) Humanembryologie. Springer, Berlin/Heidelberg/New York, pp 650–692
His W (1868) Untersuchungen über die erste Anlage des Wirbelthierleibes. Die erste Entwickelung des Hünchens im Ei. Vogel, Leipzig
His W (1885) Anatomie menschlicher Embryonen, III: Zur Geschichte der Organe. Vogel, Leipzig
Hochstetter F (1891) Ueber die Bildung der inneren Nasengänge oder primitiven Choanen. Verh Anat Ges (Anat Anz Suppl) 6:145–151
Holmes G, Basilico C (2012) Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. Dev Biol 368:283–293
Holmes G, Rothschild G, Basu Roy U, Deng CX, Mansukhani A, Basilico C (2009) Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology. Dev Biol 328:273–284
Hörstadius S (1950) The neural crest. Oxford University Press, Oxford
Hoving EW (1993) Frontoethmoidal encephaloceles. A study of their pathogenesis. Thesis, University of Groningen, The Netherlands
Howard ER, Garrett JR (1970) Histochemistry and electron microscopy of rectum and colon in Hirschsprung disease. Proc R Soc Med 63:20–22
Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI et al (1997) Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 15:36–41
Hsia YE, Bratu M, Herbordt A (1971) Genetics of the Meckel syndrome (dysencephalia splanchnocystica). Pediatrics 48:237–247
Hu D, Helms JA (1999) The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. Development 126:4873–4884
Huang J, Rajagopal R, Liu Y, Dattilo LK, Shaham O, Ashery-Padan R, Beebe DC (2011) The mechanisms of lens placode formation: a case of matrix-mediated morhogenesis. Dev Biol 355:32–42
Hunt P, Gulisano M, Cook M, Sham MH, Faiella A, Wilkinson D et al (1991) A distinct Hox code for the branchial region of the vertebrate head. Nature 353:861–864
Iseki S, Wilkie AOM, Morriss-Kay GM (1999) FGFR1 and FGFR2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault. Development 126:5611–5620
Jabs EW (2002) Genetic etiologies of craniosynostosis. In: Mooney MP, Siegel MI (eds) Understanding craniofacial anomalies: the etiopathogenesis of craniosynostoses and facial clefting. Wiley-Liss, New York, pp 125–146
Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS et al (1993) A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75:443–450
Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M et al (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 8:275–279
Jacobson C, Granström G (1997) Clinical appearance of spontaneous and induced first and second branchial arch syndromes. Scand J Plast Reconstr Hand Surg 31:125–136
Jeanty P, Zaleski W, Fleischer AC (1991) Prenatal sonographic diagnosis of lipoma of the corpus callosum in a fetus with Goldenhar syndrome. Am J Perinatol 8:89–90
Jellinger K, Gross H, Kaltenbäck E, Grisold W (1981) Holoprosencephaly and agenesis of the corpus callosum: frequency of associated malformations. Acta Neuropathol (Berl) 55:1–10
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF et al (2007) RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet 80:1162–1170
Jiang R, Lan Y, Norton CR, Sundberg JP, Gridley T (1998) The slug gene is not essential for mesoderm or neural crest development in mice. Dev Biol 198:277–285
Jirásek JE (2001) An atlas of the human embryo and fetus. Parthenon, New York
Johnson D, Iseki I, Wilkie AOM, Morriss-Kay GM (2000) Expression patterns of TWIST and FGFR1-2 and -3 in the developing mouse coronal suture suggest a key role for TWIST in suture initiation and biogenesis. Mech Dev 91:341–345
Johnson JM, Moonis G, Green GE, Carmody R, Burbank HN (2011a) Syndromes of the first and second branchial arches, part 1: embryology and characteristic defects. AJNR Am J Neuroradiol 32:14–19
Johnson JM, Moonis G, Green GE, Carmody R, Burbank HN (2011b) Syndromes of the first and second branchial arches, part 2: syndromes. AJNR Am J Neuroradiol 32:230–237
Johnston MC, Bronsky PT (1995) Prenatal craniofacial development: new insights on normal and abnormal mechanisms. Crit Rev Oral Biol Med 6:368–422
Johnston MC, Bronsky PT (2002) Craniofacial embryogenesis: abnormal developmental mechanisms. In: Mooney MP, Siegel MI (eds) Understanding craniofacial anomalies: the etiopathogenesis of craniosynostoses and facial clefting. Wiley-Liss, New York, pp 61–124
Jones MC (1990) The neurocristopathies: reinterpretation based upon the mechanism of abnormal morphogenesis. Cleft Palat J 27:136–140
Jones KL (1997) Smith’s recognizable patterns of human malformation, 5th edn. Saunders, Philadelphia
Jones NC, Lynn ML, Gaudenz K, Sakai D, Aoto K, Rey JP et al (2008) Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 14:125–133
Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L et al (2006) CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 43:306–314
Jugessur A, Farlie PG, Kilpatrick N (2009) The genetics of isolated orofacial clefts: from genotypes to subphenotypes. Oral Dis 15:437–453
Juriloff DM, Sulik KK, Roderick TH, Hogan BK (1985) Genetic and developmental studies of a new mouse mutation that produces otocephaly. J Craniofac Genet Dev Biol 5:121–145
Justice CM, Yagnik G, Kim Y, Peter I, Wang Jabs E, Erazo M et al (2012) A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet 44:1360–1364
Kanagasuntheram R (1967) A note on the development of the tubotympanic recess in the human embryo. J Anat (Lond) 101:731–741
Kang S, Graham JM, Haskins-Olney A, Biesecker LG (1997) Gli3 Frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 15:266–268
Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G et al (2009) ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet 18:4357–4366
Kayserili H, Altunoglu U, Ozgur H, Basaran S, Uyguner ZO (2012) Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations. Am J Med Genet A 158A:236–244
Kelbermann D, Tyson J, McInemey AM, Malcolm S, Winter RM, Bitner-Glindricz M (2000) Mapping of a locus for autosomal dominant hemifacial microsomia. J Med Genet 37(Suppl 1):S76
Kelley RI, Hennekam RCM (2001) Smith-lemli-opitz syndrome. In: Scriver CR, Beaudet al, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 6183–6201
Kelley RI, Roessler E, Hennekam RCM, Feldman GL, Kosaki K, Jones MC et al (1996) Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet 66:478–484
Kimura C, Takeda N, Suzuki M, Oshimura M, Aizawa S, Matsuo I (1997) Cis-acting elements conserved between mouse and pufferfish Otx2 genes govern the expression in mesencephalic neural crest cells. Development 124:3929–3941
Kirby ML (1987) Cardiac morphogenesis: recent research advances. Pediatr Res 21:219–224
Kirby ML, Waldo KL (1990) Role of neural crest in congenital heart disease. Circulation 82:332–340
Kjaer I, Keeling JW, Fischer-Hansen B (1999) The prenatal human cranium – normal and pathologic development. Munksgaard, Copenhagen
Kleinhaus S, Boley SJ, Sheran M, Sieber WK (1979) Hirschsprung’s disease. A survey of the members of the academy of pediatrics. J Pediatr Surg 14:588–597
Kleinsasser O, Schlothane R (1964) Die ohrenbildung im rahmen der thalidomide-embryopathie. Z Laryngol Rhinol Otol 43:344–367
Knecht AK, Bronner-Fraser M (2002) Induction of the neural crest: a multigenic process. Nat Rev Genet 3:453–461
Knisely AS, Ambler MW (1988) Temporal-lobe abnormalities in thanatophoric dysplasia. Pediatr Neurosci 14:169–176
Kreiborg S (1981) Crouzon syndrome. A clinical and roentgencephalometric study. Scand J Plast Reconstr Surg 18(Suppl):1–198
Kress W, Schropp C, Lieb G, Petersen B, Busse-Ratzka M, Kunz J et al (2006) Saethre-Chotzen syndrome caused by TWIST1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet 14:39–48
Kubota Y, Ito K (2000) Chemotactic migration of mesencephalic neural crest cells in the mouse. Dev Dyn 217:170–179
Kulesa PM, Fraser SE (1998) Neural crest cell dynamics revealed by time-lapse video microscopy of whole embryo chick explant cultures. Dev Biol 204:327–344
Kulesa PM, Fraser SE (2000) In ovo time-lapse analysis after dorsal neural tube ablation shows rerouting of chick hindbrain neural crest. Development 127:2843–2852
Kurtz AB, Wapner RJ, Rubin CS, Cole-Beuglet C, Ross D, Goldberg BB (1980) Ultrasound criteria for in utero diagnosis of microcephaly. J Clin Ultrasound 8:11–16
Kweldam CF, Van der Vlugt JJ, Van der Meulen JJNM (2011) The incidence of craniosynostosis in the Netherlands, 1997–2007. J Plast Reconstr Aesthet Surg 64:583–588
LaBonne C, Bronner-Fraser M (1999) Molecular mechanisms of neural crest formation. Annu Rev Cell Dev Biol 15:81–112
LaBonne C, Bronner-Fraser M (2000) Snail-related transcriptional repressors are required in Xenopus for both the induction of the neural crest and its subsequent migration. Dev Biol 221:195–205
Lammer EJ, Opitz JM (1986) The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl 2:113–127
Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT et al (1985) Retinoic acid embryopathy. N Engl J Med 313:837–841
Laue K, Pogoda H-M, Daniel PB, van Haeringen A, Alanay Y, von Ameln S et al (2011) Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Am J Hum Genet 89:595–606
Le Douarin NM (1969) Particularités du noyau interphasique chez la caille japonaise (Coturnix coturnix japonica). Utilisation de ces particularités comme ‘marquage biologique’ dans les recherches sur les interactions tissulaires et les migrations cellulaires au cours de l’ontogenèse. Bull Biol Fr Belg 103:435–452
Le Douarin NM (1973) A Feulgen-positive nucleolus. Exp Cell Res 77:459–468
Le Douarin NM (2004) The avian embryo as a model to study the development of the neural crest: a long and still ongoing story. Mech Dev 121:1089–1102
Le Douarin NM, Dupin E (2012) The neural crest in vertebrate evolution. Curr Opin Genet Dev 22:381–389
Le Douarin NM, Kalcheim C (1999) The neural crest, 2nd edn. Cambridge University Press, Cambridge
Le Douarin NM, Teillet M-A (1973) The migration of neural crest cells to the wall of the digestive tract in avian embryo. J Embryol Exp Morphol 30:1–48
Le Douarin NM, Couly G, Creuzet SE (2012) The neural crest is a powerful regulator of pre-otic brain development. Dev Biol 366:74–82
Le Lièvre CS, Le Douarin NM (1975) Mesenchymal derivatives of the neural crest: analysis of chimaeric quail and chick embryos. J Embryol Exp Morphol 34:125–154
Lemire RJ, Cohen MM Jr, Beckwith JB, Kokich VG, Siebert JR (1981) The facial features of holoprosencephaly in anencephalic human specimens. I. Historical review and associated malformations. Teratology 23:297–303
Leussink B, Brouwer A, El Khattabi M, Poelmann RE, Gittenberger-de Groot AC, Meijlink F (1995) Expression patterns of the paired-related homeobox genes MHox/Prx1 and S8/Prx2 suggest roles in development of the heart and the forebrain. Mech Dev 52:51–64
Lindsay EA (2001) Chromosomal microdeletions: dissecting del22q11 syndrome. Nat Rev Genet 2:858–868
Lindsay EA, Baldini A (2001) Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region. Hum Mol Genet 10:997–1002
Lindsay EA, Botta A, Jurcic V, Carattini-Rivera S, Cheah YC, Rosenblatt HM et al (1999) Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 401:379–383
Lindsay EA, Vitelli F, Su H, Morishima M, Huyuh T, Pramparo T et al (2001) Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410:97–101
Linker C, Bronner-Fraser M, Mayor R (2000) Relationship between gene expression domains of Xsnail, Xslug and Xtwist and cell movement in the prospective neural crest of Xenopus. Dev Biol 224:215–225
Liu Q, Yang ML, Li ZJ, Bax XF, Wang XK, Lu L et al (2007) A simple and precise classification for cleft lip and palate: a five-digit numerical recording system. Cleft Palate Craniofac J 44:465–468
Liu Q, Spusta SC, Mi R, Lassiter RNT, Stark MR, Höke A et al (2012) Human neural crest cells derived from human ESCs and induces pluripotent stem cells: induction, maintenance and differentiation into functional Schwann cells. Stem Cells Transl Med 1:266–278
Lleras-Forero L, Streit A (2012) Development of the sensory nervous system in the vetrebrate head: the importance of time. Curr Opin Genet Dev 22:315–322
Locascio A, Nieto MA (2001) Cell movements during vertebrate development: integrated tissue behaviour versus individual cell migration. Curr Opin Genet Dev 11:464–469
Luijsterberg AJM, Vermeij-Keers C (2011) Ten years recording common oral clefts with a new descriptive system. Cleft Palate Craniofac J 48:173–182
Luijsterberg AJ, Rozendaal AM, Vermeij-Keers C (2014) Classifying common oral clefts: a new approach after descriptive registration. Cleft Palate Craniofac J (in press)
Lumsden A, Guthrie S (1991) Alternating patterns of cell surface properties and neural crest cell migration during segmentation of the chick embryo. Development (Suppl) 2:9–15
Maarse W, Rozendaal AM, Pajkrt E, Vermeij-Keers C, Mink van der Molen AB, Van den Boogaard MJ (2012) A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated? J Med Genet 49:490–498
Macca M, Franco B (2006) The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C 151C:318–325
Manley NR, Capecchi MR (1995) The role of Hoxa-3 in mouse thymus and thyroid development. Development 121:1989–2003
Mark M, Ghyselinck NB, Chambon P (2004) Retinoic acid signalling in the development of branchial arches. Curr Opin Genet Dev 14:591–598
Marres HAM, Cremers CWRJ, Dixon MJ, Huygen PLM, Joosten FBM (1995) The Treacher Collins syndrome: a clinical, radiological and genetic linkage study of two pedigrees. Arch Otolaryngol Head Neck Surg 121:509–514
Marsh KL, Dixon MJ (2001) Treacher Collins syndrome. In: Scriver CR, Beaudet al, Sly WS, Valle D (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 6147–6152
Marucci DD, Dunaway DJ, Jones BM, Hayward RD (2008) Raised intracranial pressure in Apert syndrome. Plast Reconstr Surg 122:1162–1168
Mathijssen IMJ, Vaandrager JM, Van der Meulen JC, Pieterman H, Sonneveld JW, Kreiborg S, Vermeij-Keers C (1996) The role of bone centers in the pathogenesis of craniosynostosis: an embryologic approach using CT measurements in isolated craniosynostosis and Apert and Crouzon syndromes. Plast Reconstr Surg 98:17–26
Mathijssen IMJ, Van Splunder J, Vermeij-Keers C, Pieterman H, De Jong THR, Mooney MP, Vaandrager JM (1999) Tracing craniosynostosis to its developmental stage through bone center displacement. J Craniofac Genet Dev Biol 19:57–63
Mathijssen I, Arnaud E, Lajeunie E, Marchac D, Renier D (2006) Postoperative cognitive outcome for synostotic frontal plagiocephaly. J Neurosurg 105(1 Suppl Pediatr):16–20
Matsunaga E, Shiota K (1977) Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology 16:261–272
Matsuo I, Kuratani S, Kimura C, Takeda N, Aizawa S (1995) Mouse Otx2 functions in the formation and patterning of rostral head. Genes Dev 9:2646–2658
Mavrogiannis LA, Antonopoulou I, Baxova A, Kutilek S, Kim CA, Sugayama SM et al (2001) Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet 27:17–18
Mayor R, Theveneau E (2013) The neural crest. Development 140:2247–2251
Mayor R, Morgan R, Sargent MG (1995) Induction of the prospective neural crest of Xenopus. Development 121:767–777
McDonald-McGinn DM, Feret H, Nah HD, Bartlett SP, Whitaker LA, Zacka EH (2010) Metopic craniosynostosis due to mutations in Gli3: a novel association. Am J Med Genet A 152A:1654–1660
Meijlink F, Beverdam A, Brouwer A, Oosterveen TC, ten Berge D (1997) Vertebrate aristaless-related genes. Int J Dev Biol 43:651–663
Menezes AH, VanGilder JC, Graf CJ, McDonnell DE (1980) Craniocervical abnormalities: a comprehensive surgical approach. J Neurosurg 53:444–455
Mérida-Velasco JA, Sánchez-Montesinos I, EspÃn-Ferra J, GarcÃa-GarcÃa JD, Roldan-Schilling V (1993) Developmental differences in the ossification process of the human corpus and ramus mandibulae. Anat Rec 235:319–324
Meyers GA, Orlow SJ, Munro IR, Przylepa PA, Wang Jabs E (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 11:462–464
Ming JE, Muenke M (1998) Holoprosencephaly: from Homer to hedgehog. Clin Genet 53:155–163
Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M et al (2002) Mutations in PATCHED-1, the receptor of SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet 110:297–301
Mo R, Freer AM, Zinyk DL, Crackower MA, Michaud J, Heng HH et al (1997) Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development. Development 124:113–123
Morriss-Kay GM, Ward SJ (1999) Retinoids and mammalian development. Int Rev Cytol 188:73–131
Morriss-Kay GM, Wilkie AOM (2005) Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies. J Anat (Lond) 207:637–653
Morriss-Kay GM, Ruberte E, Fukiishi Y (1993) Mammalian neural crest and neural crest derivatives. Ann Anat 175:501–507
Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC (2009) Cleft lip and palate. Lancet 347:1773–1785
Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Ades LC et al (1998) Hirschsprung disease, microcephaly, mental retardation, and cgaracteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet 35:617–623
Mowat DR, Wilson MJ, Goossens M (2003) Mowat-Wilson syndrome. J Med Genet 40:305–310
Muenke M, Beachy PA (2001) Holoprosencephaly. In: Scriver CR, Beaudet al, Sly WS, Valle D (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 6203–6230
Muenke M, Wilkie AOM (2001) Craniosynostosis syndromes. In: Scriver CR, Beaudet al, Sly WS, Valle D (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 6117–6146
Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A et al (1994) A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 8:269–274
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Barlett SP et al (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555–564
Müller F, O’Rahilly R (1980) The human chondrocranium at the end of the embryonic period, proper, with particular reference to the nervous system. Am J Anat 159:33–58
Müller F, O’Rahilly R (1983) The first appearance of the major divisions of the human brain at stage 9. Anat Embryol (Berl) 168:419–432
Müller F, O’Rahilly R (1985) The first appearance of the neural tube and optic primordium in the human embryo at stage 10. Anat Embryol (Berl) 172:157–169
Müller F, O’Rahilly R (1986) The development of the human brain and the closure of the rostral neuropore at stage 11. Anat Embryol (Berl) 175:205–222
Müller F, O’Rahilly R (1988a) The development of the human brain from a closed neural tube at stage 13. Anat Embryol (Berl) 177:203–224
Müller F, O’Rahilly R (1988b) The first appearance of the future cerebral hemispheres in the human embryo at stage 14. Anat Embryol (Berl) 177:495–511
Müller F, O’Rahilly R (1989) Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia, in relation to the development of the human forebrain. Am J Anat 185:391–414
Müller F, O’Rahilly R (1994) Occipitocervical segmentation in staged human embryos. J Anat (Lond) 185:251–258
Nagai T, Aruga J, Takada S, Günther T, Spörle R, Shughart K, Mikoshiba K (1997) The expression of the mouse Zic1, Zic2, and Zic3 genes suggests an essential role for Zic genes in body pattern formations. Dev Biol 182:299–313
Nagai T, Aruga J, Minowa O, Sugimoto T, Ohno Y, Noda T, Mikoshiba K (2000) Zic2 regulates the kinetics of neurulation. Proc Natl Acad Sci U S A 97:1618–1623
Nakatsu T, Uwabe C, Shiota K (2000) Neural tube closure in humans initiates at multiple sites: evidence from human embryos and implications for the pathogenesis of neural tube defects. Anat Embryol (Berl) 201:455–466
Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, de Die-Smulders C et al (1999) The mutational spectrum of the Sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 8:2479–2488
Nanni L, Croen LA, Lammer EJ, Muenke M (2000) Holoprosencephaly: molecular study of a Californian population. Am J Med Genet 90:315–319
Naora H, Kimura M, Otani H, Yokoyama M, Koizumi I, Katiuki M, Tanaka O (1994) Transgenic mouse model of hemifacial microsomia: cloning and characterization of insertional mutation region on chromosome 10. Genomics 23:515–519
Nelson FN, Hecht JT, Horton WA, Butler IJ, Goldie WD, Miner M (1988) Neurological basis of respiratory complications in achondroplasia. Ann Neurol 24:89–93
Newgeen DF, Scheel M, Kaster V (1986) Morphogenesis of sclerotome and neural crest cells in avian embryos: in vivo and in vitro studies on the role of notochordal extracellular material. Cell Tissue Res 244:299–313
Niederreither K, Vermot J, Le Roux I, Schuhbaur B, Chambon P, Dollé P (2003) The regional pattern of retinoic acid synthesis by RALDH2 is essential for the development of the posterior pharyngeal arches and the enteric nervous system. Development 130:2525–2534
Niederreither K, Dollé P (2008) Retinoic acid development: towards an integrated view. Nat Rev Genet 9:541–543
Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML et al (2011) Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. Am J Hum Genet 89:67–81
Nieto MA, Sargent MG, Wilkinson DG, Cooke J (1994) Control of cell behavior during vertebrate development by slug, a zinc finger gene. Science 264:835–839
Nishimura Y (1993) Embryological study of nasal cavity development in human embryos with reference to congenital nostril atresia. Acta Anat (Basel) 147:140–144
Noden DM (1978a) The control of avian cephalic neural crest cytodifferentiation. I. Skeletal and connective tissues. Dev Biol 67:296–312
Noden DM (1978b) The control of avian cephalic neural crest cytodifferentiation. II. Neural tissues. Dev Biol 67:313–329
Noden DM (1983a) The role of the neural crest in patterning of avian cranial skeletal, connective, and muscle tissues. Dev Biol 96:144–165
Noden DM (1983b) The embryonic origins of avian craniofacial muscles and associated connective tissues. Am J Anat 186:257–276
Noden DM (1991a) Cell movements and control of patterned tissue assembly during craniofacial development. J Craniofac Genet Dev Biol 11:192–213
Noden DM (1991b) Vertebrate craniofacial development: the relation between ontogenetic process and morphological outcome. Brain Behav Evol 38:190–225
Noden DM, Trainor PA (2005) Relations and interactions between cranial mesoderm and neural crest populations. J Anat (Lond) 207:575–601
Norman MG, McGillivray BC, Kalousek DK, Hill A, Poskitt PJ (1995) Congenital malformations of the brain. Pathologic, embryologic, clinical, radiologic and genetic aspects. Oxford University Press, New York
Norris EH (1937) The parathyroid glands and lateral thyroid in man: their morphogenesis, histogenesis, topographic anatomy and prenatal growth. Contrib Embryol Carnegie Inst 26:247–294
Norris EH (1938) The morphogenesis and histogenesis of the thymus gland in man: in which the origin of Hassall’s corpuscle of the human thymus is discovered. Contrib Embryol Carnegie Inst 27:191–207
O’Gorman S (2005) Second branchial arch lineages of the middle ear of wild-type and Hoxa2 mutant mice. Dev Dyn 234:124–131
O’Leary DDM, Wilkinson DG (1999) Eph receptors and ephrins in neural development. Curr Opin Neurobiol 9:65–73
O’Rahilly R (1966) The early development of the eye in staged human embryos. Contrib Embryol Carnegie Inst 38:1–42
O’Rahilly R (1973) Developmental stages in human embryos. Part A: embryos of the first three weeks (stages 1 to 9). Carnegie Institution of Washington Publication 631, Washington, DC
O’Rahilly R (1983) The timing and sequence of events in the development of the human eye and ear. Anat Embryol (Berl) 168:87–99
O’Rahilly R, Gardner E (1971) The timing and sequence of events in the development of the human nervous system during the embryonic period proper. Z Anat Entw Gesch 134:1–12
O’Rahilly R, Müller F (1981) The first appearance of the human nervous system at stage 8. Anat Embryol (Berl) 163:1–13
O’Rahilly R, Müller F (1999) The embryonic human brain. An atlas of developmental stages, 2nd edn. Wiley-Liss, New York
O’Rahilly R, Müller F (2001) Human embryology & teratology, 3rd edn. Wiley-Liss, New York
O’Rahilly R, Müller F (2007) The development of the neural crest in the human. J Anat (Lond) 211:335–351
Ongkosuwito EM, van Vooren J, van Neck JW, Wattel E, Wolvius EB, van Adrichem LN, Kuijpers-Jagtman AM (2013) Changes of mandibular ramal height, during growth in unilateral hemifacial microsomia patients and unaffected controls. J Craniomaxillofac Surg 41:92–97
Ongkosuwito EM, van Neck JW, Wattel E, van Adrichem LN, Kuijpers-Jagtman AM (2014) Craniofacial morphology in unilateral hemifacial microsomia. Br J Oral Maxillofac Surg (in press)
Oostrom CAM, Vermeij-Keers C, Gilbert PM, van der Meulen JC (1996) Median cleft of the lower lip and mandible: case reports, a new embryological hypothesis and subdivision. Plast Reconstr Surg 97:313–319
Opperman LA (2000) Cranial sutures as intramembranous growth sites. Dev Dyn 219:472–485
Osumi-Yamashita N, Iseki S, Noji S, Nohno T, Koyama E, Taniguchi S et al (1992) Retinoic acid treatment induces the ectopic expression of retinoic acid receptor β gene and excessive cell death in the embryonic mouse face. Dev Growth Differ 34:199–209
Pane M, Baranello G, Battaglia D, Donvito V, Carnevale F, Stefanini MC et al (2004) Severe abnormalities of the Pons in two infants with Goldenhar syndrome. Neuropediatrics 35:234–238
Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW (1995) Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 57:321–328
Passos-Bueno MR, Wilcox WR, Jabs EW, Sertie AL, Alonso LG, Kitoh H (1999) Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat 14:115–125
Passos-Bueno MR, Ornelas CC, Fanganiello RD (2009) Syndromes of the first and second pharyngeal arches: a review. Am J Med Genet A 149A:1853–1859
Pauli RM, Pettersen JC, Arya S, Gilbert EF (1983) Familial agnathia-holoprosencephaly. Am J Med Genet 14:677–698
Pfeiffer RA (1964) Dominant erbliche Akrocephalosyndactylie. Z Kinderheilk 90:310–320
Phelps PD, Poswillo D, Lloyd GAS (1981) The ear deformities in mandibulofacial synostosis. Clin Otolaryngol 6:15–28
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N (2010) Review and update of mutations causing Waardenburg syndrome. Hum Mutat 31:391–406
Poelmann RE, Dubois SV, Hermsen C, Smits-van Prooije AE, Vermeij-Keers C (1985) Cell degeneration and mitosis in the buccopharyngeal and branchial membranes in the mouse embryo. Anat Embryol (Berl) 171:187–192
Politzer G (1952) Zur normalen und abnormen Entwicklung des menschlichen Gesichtes. Z Anat Entw Gesch 116:332–347
Poswillo D (1973) The pathogenesis of the first and second branchial arch syndrome. Oral Surg 35:302–328
Poswillo D (1975) The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br J Oral Surg 13:1–26
Pratt RM, Goulding EH, Abbott BD (1987) Retinoic acid inhibits migration of cranial neural crest cells in the cultured mouse embryo. J Craniofac Genet Dev Biol 7:205–217
Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ et al (1996) Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrate syndrome. Nat Genet 13:492–494
Qu S, Niswender KD, Ji QS, van der Meer R, Keeney D, Magnuson MA, Wisdom R (1997) Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. Development 124:3999–4008
Rannan-Eliya SV, Taylor IB, de Heer IM, van den Ouweland AMW, Wall SA, Wiklie AOM (2004) Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. Hum Genet 115:200–207
Read AP (2001) Waardenburg syndrome. In: Scriver CR, Beaudet al, Sly WS, Valle D (eds) The metabolic & molecular bases of inherited disease. McGraw-Hill, New York, pp 6097–6116
Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 8:98–103
Reid CS, Pyeritz RE, Kopits SE, Maria BL, Wang H, McPherson RW et al (1987) Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. J Pediatr 110:522–530
Renier D, Sainte-Rose C, Marchac D, Hirsch JF (1982) Intracranial pressure in craniosynostosis. Childs Nerv Syst 16:645–658
Renier D, Lajeunie E, Arnaud E, Marchac D (2000) Management of craniosynostosis. Childs Nerv Sys 16:645–658
Rhinn M, Dollé P (2012) Retinoic acid signalling during development. Development 139:843–858
Rice DP, Aberg T, Chan Y, Tang Z, Kettunen PJ, Pakarinen L et al (2000) Integration of FGF and TWIST in calvarial bone and suture development. Development 127:1845–1855
Rijken B, Lequin MH, De Rooi JJ, Van Veelen MLC, Mathijssen IMJ (2013) Foramen magnum size and involvement of its intra-occipital synchondroses in Crouzon syndrome. Plast Reconstr Surg 132:993e–1000e
Rijli FM, Mark M, Lakharaju S, Dierich A, Dollé P, Chambon P (1993) A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a selector gene. Cell 75:1333–1349
Rijli FM, Gavalas A, Chambon P (1998) Segmentation and specification in the branchial region of the head: the role of the Hox selector genes. Int J Dev Biol 42:393–401
Rittler M, Lopez-Camelo JS, Castilla EE, Bermejo E, Cocchi G, Correa A et al (2008) Preferential associations between oral clefts and other major congenital anomalies. Cleft Palate Craniofac J 45:525–532
Roessler E, Muenke M (1998) Holoprosencephaly: a paradigm for the complex genetics of brain development. J Inherit Metab Dis 21:481–497
Roessler E, Muenke M (2010) The molecular genetics of holoprosencephaly. Am J Med Genet C 154C:52–61
Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW et al (1996) Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14:357–360
Roessler E, Du Y-Z, Muller JL, Casas E, Allen WP, Gillessen-Kaesbach G et al (2003) Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A 100:13424–13429
Roessler E, Ouspenkaia MV, Karkera JD, Vélez JI, Kantipong A, Lacbawan F et al (2008) Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet 83:18–29
Roessler E, Lacbawan F, Dubourg C, Paulussen A, Herbergs J, Hehr U et al (2009) The full spectrum of holoprosencephaly-associated mutations with the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. Hum Mutat 39:E541–E544
Ronen GM, Andrews WL (1991) Holoprosencephaly as a possible embryonic alcohol effect. Am J Med Genet 40:151–154
Rosa F, Piazza-Hepp T, Goetsch R (1994) Holoprosencephaly with 1st trimester topical isotretinoin. Teratology 49:418–419
Rozendaal AM, Luijsterberg AJ, Ongkosuwito EM, van den Boogaard MJ, de Vries E, Hovius SE, Vermeij-Keers C (2012) Delayed diagnosis and underreporting of congenital anomalies associated with oral clefts in the Netherlands: a national validation study. J Plast Reconstr Aesthet Surg 65:780–790
Rudé FP, Anderson L, Conley D, Gasser RF (1994) Three-dimensional reconstructions of the primary palate region in normal human embryos. Anat Rec 238:108–113
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798–804
Saethre H (1931) Ein Beitrag zum Turmschädelproblem (Pathogenese, Erblichkeit, und Symptomologie). Deutsch Z Nervenheilk 117:533–555
Sakai Y (1989) Neurulation in the mouse: manner and timing of neural tube closure. Anat Rec 223:194–203
Sandikcioglu M, Molsted K, Kjaer I (1994) The prenatal development of the human nasal and vomeronasal bones. J Craniofac Genet Dev Biol 14:124–134
Sanlaville D, Verloes A (2007) CHARGE syndrome: an update. Eur J Hum Genet 15:389–399
Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL et al (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 43:211–217
Santagati F, Rijli FM (2003) Cranial neural crest and the building of the vertebrate head. Nat Rev Neurosci 4:806–818
Sato N, Matsuishi T, Utsunomiya N, Yamashita Y, Horikoshi T, Okudera T, Hashimoto T (1987) Aicardi syndrome with holoprosencephaly and cleft lip and palate. Pediatr Neurol 3:114–116
Sauka-Spengler T, Bronner-Fraser M (2008) A gene regulatory network orchestrates neural crest formation. Nat Rev Mol Cell Biol 9:557–568
Saunders CJ, Zhao W, Ardinger HH (2009) Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North-American cohort: a suggested approach to molecular diagnostics. Am J Med Genet A 149A:2527–2531
Scambler PJ (1994) DiGeorge syndome and related birth defects. Sem Dev Biol 5:303–310
Scambler PJ (2000) The 22q11 deletion syndromes. Hum Mol Genet 9:2421–2426
Schier AF (2001) Axis formation and patterning in zebrafish. Curr Opin Genet Dev 11:393–404
Schinzel A (1983) Catalogue of unbalanced chromosome aberrations in man. De Gruyter, Berlin
Schneider RA, Hu D, Rubinstein JLR, Maden M, Helms JA (2001) Local retinoid signaling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH. Development 128:2755–2767
Sechrist J, Serbedzija GN, Scherson T, Fraser SE, Bronner-Fraser M (1993) Segmental migration of the hindbrain neural crest does not arise from its segmental generation. Development 118:691–703
Sedano HO, Cohen MM Jr, Jirásek JE, Gorlin RJ (1970) Frontonasal dysplasia. J Pediatr 76:906–913
Sedlacková E (1967) The syndrome of the congenitally shortened velum. The dual innervation of the soft palate. Folia Phoniatr Logop 19:441–443
Sefton M, Sánchez S, Nieto MA (1998) Conserved and divergent roles for members of the Snail family of transcription factors in the chick and mouse embryo. Development 125:3111–3121
Selber J, Reid RR, Chike-Obi CJ, Sutton LN, Zackai EH, McDonald-McGinn D et al (2008) The changing epidemiologic spectrum of single-suture synostoses. Plast Reconstr Surg 122:527–533
Sergi C, Kamnasaran D (2011) PRRX1 is mutated in a fetus with agnathia-otocephaly. Clin Genet 79:293–295
Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JAC, Hoogeboom AJM et al (2013) Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet 45:304–307
Sheahan S, Bellamy CO, Hazland SN, Harrison DJ, Prost S (2008) TGFbeta induces apoptosis and EMT in primary mouse hepatocytes, independent of p53, p21 Cip1 or Rb status. BMC Cancer 8:191
Shin SH, Kogerman P, Lindstom E, Toftgard R, Biesecker LG (1999) GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. Proc Natl Acad Sci U S A 96:288–304
Shiota K (1993) Teratothanasia: prenatal loss of abnormal conceptuses and the prevalence of various malformations during human gastrulation. Birth Defects 29:189–199
Shprintzen RJ, Goldberg RB, Lewin HL, Sidoti EJ, Berkman MD, Argamaso RV (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 15:56–62
Siebert J, Cohen MM Jr, Sulik KK, Shaw C-M, Lemire RJ (1990) Holoprosencephaly: an overview and atlas of cases. Wiley-Liss, New York
Smith DW, Töndury G (1978) Origin of the calvaria and its sutures. Am J Dis Child 132:662–666
Smits-van Prooije AE, Vermeij-Keers C, Poelmann RE, Mentink MMT, Dubbeldam JA (1985) The neural crest in presomite to 40-somite murine embryos. Acta Morphol Neerl-Scand 23:99–114
Smits-van Prooije AE, Vermeij-Keers C, Dubbeldam JA, Mentink MMT, Poelmann RE (1987) The formation of mesoderm and mesectoderm in presomite rat embryos cultured in vitro, using WGA-Au as a marker. Anat Embryol (Berl) 176:71–77
Smits-van Prooije AE, Vermeij-Keers C, Poelmann RE, Mentink MMT, Dubbeldam JA (1988) The formation of mesoderm and mesectoderm in 5- to 41-somite rat embryos cultured in vitro, using WGA-Au as a marker. Anat Embryol (Berl) 177:245–256
Song J (2007) EMT or apoptosis: a decision for TGF-β. Cell Res 17:289–290
Sperber GH (2001) Craniofacial development. Decker, Hamilton
Sperber GH (2002) Craniofacial embryogenesis: normal developmental mechanisms. In: Mooney MP, Siegel MI (eds) Understanding craniofacial anomalies: the etiopathogenesis of craniosynostosis and facial clefting. Wiley-Liss, New York, pp 31–59
Sperber GH, Gorlin RJ (1997) Head and neck. In: Gilbert-Barness E (ed) Potter’s pathology of the fetus and infant. Mosby, St. Louis, pp 1541–1579
Sperber GH, Honore LH, Johnson ES (1986) Acalvaria, holoprosencephaly and facial dysmorphia syndrome. In: Melnick M (ed) Current concepts in craniofacial anomalies. Liss, New York, pp 318–329
Sperber GH, Sperber SM, Guttmann GD (2010) Craniofacial embryogenetics and development. People’s Medical Publishing House, Shelton
Spritz RA, Chiang P-W, Oiso N, Alkhateeb A (2003) Human and mouse disorders of pigmentation. Curr Opin Genet Dev 13:284–289
Starck D (1975) Embryologie, 3rd edn. Thieme, Stuttgart
Steventon B, Mayor R (2012) Early neural crest induction requires an initial inhibition of Wnt signals. Dev Biol 365:196–207
Streeter GL (1906) On the development of the membranous labyrinth and the acoustic and facial nerves in the human embryo. Am J Anat 6:139–165
Streeter GL (1918) The histogenesis and growth of the otic capsule and its contained periotic tissue-spaces in the human embryo. Contrib Embryol Carnegie Inst 7:5–54
Streeter GL (1922) Development of the auricle in the human embryo. Contrib Embryol Carnegie Inst 14:111–138
Sulik KK (1996) Craniofacial development. In: Turvey TA, Vig KWL, Fonseca RJ (eds) Facial clefts and synostosis – principles and management. Saunders, Philadelphia, pp 3–27
Sulik KK, Johnston MC, Daft PA, Russell WE (1986) Fetal alcohol syndrome and DiGeorge anomaly: critical ethanol exposure periods for craniofacial malformations as illustrated in an animal model. Am J Med Genet 2:191–194
Sulik KK, Johnston MC, Smiley SJ, Speight HS, Jarvis BE (1987) Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. Am J Med Genet 27:359–372
Sulik KK, Cook CS, Webster WS (1988) Teratogens and craniofacial malformations: relationship to cell death. Development 103:213–231
Sun X, Meyers EN, Lewandoski M, Martin GR (1999) Targeted disruption of Fgf8 causes failure of cell migration in the gastrulating mouse embryo. Genes Dev 13:1834–1846
Tan S-S, Morriss-Kay G (1985) The development and distribution of the cranial neural crest in the rat embryo. Cell Tissue Res 240:403–416
Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS et al (1995) Thanatophoric dysplasia (Type I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9:321–328
Taylor AI (1968) Autosomal trisomy syndrome: a detailed study of 27 cases of Edwards’ syndrome and 27 cases of Patau’s syndrome. J Med Genet 5:227–252
ten Berge D, Brouwer A, El Bahi S, Guénet JL, Robert B, Meijlink F (1998a) Mouse Alx3: an aristaless-like homeobox gene expressed during embryogenesis in ectomesenchyme and lateral plate mesoderm. Dev Biol 199:11–25
ten Berge D, Brouwer A, Korving J, Martin JF, Meijlink F (1998b) Prx1 and Prx2 in skeletogenesis: roles in the craniofacial region, inner ear and limbs. Development 125:3831–3842
ten Berge D, Brouwer A, Korving J, Reijnen MJ, van Raaij EJ, Verbeek F et al (2001) Prx1 and Prx2 are upstream regulators of sonic hedgehog and control cell proliferation during mandibular arch morphogenesis. Development 128:2929–2938
ten Donkelaar HJ, Vermeij-Keers C, Lohman AHM (2007) Hoofd en hals. In: ten Donkelaar HJ, Lohman AHM, Moorman AFM (eds) Klinische Anatomie en Embryologie, 3rd edn. Elsevier, Maarssen, pp 545–727 (in Dutch)
ten Donkelaar HJ, Němcová V, Lammens M, Overeem S, Keyser A (2011) The autonomic nervous system. In: ten Donkelaar HJ (ed) Clinical neuroanatomy: brain circuitry and its disorders. Springer, Heidelberg/Berlin/New York, pp 564–602
Thauvin-Robinet C, Cossee M, Cornier-Daire V, Van Maldergem L, Toutain A, Alembik Y et al (2006) Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet 45:54–61
Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A et al (2009) Genomic deletions of OFD1 account for 23 % of oral-facial-digital type 1 syndrome after negative DNA sequencing. Hum Mutat 30:E320–E329
The Treacher Collins Syndrome Collaborative Group (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:130–136
Theveneau E, Mayor R (2012) Neural crest delamination and migration: from neuroepithelium-to-mesenchyme transition to collective cell migration. Dev Biol 366:34–54
Thiery JP, Sleeman JP (2006) Complex networks orchestrate epithelial-mesenchymal transitions. Nat Rev Mol Cell Biol 7:131–142
Thompson H, Tucker AS (2013) Dual origin of the epithelium of the mammalian middle ear. Science 339:1453–1456
Thompson DNP, Malcolm GP, Jones BM, Harkness WJ, Hauward RD (1995) Intracranial pressure in single-suture craniosynostosis. Pediatr Neurosurg 22:235–240
Thompson H, Ohazama A, Sharpe PT, Tucker AS (2012) The origin of the stapes and relationship to the otic capsule and oval window. Dev Dyn 241:1396–1404
Tint OS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G (1994) Defective cholesterol biosynthesis associated with Smith-Lemli-Opitz syndrome. N Engl J Med 330:107–113
Tobin JL, Di Franco M, Eichers E, May-Simers H, Garcia M, Yan J et al (2008) Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung’s disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A 105:6714–6719
Trainor PA (2010) Craniofacial birth defects: the role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. Am J Med Genet A 152A:2984–2994
Trainor PA, Krumlauf R (2000) Patterning the cranial neural crest: Hindbrain segmentation and Hox gene plasticity. Nat Rev Neurosci 1:116–124
Trainor PA, Tan S-S, Tam PPL (1994) Cranial paraxial mesoderm: regionalisation of cell fate and impact on craniofacial development in mouse embryos. Development 120:2397–2408
Trainor PA, Sobieszczuk D, Wilkinson D, Krumlauf R (2002) Signalling between the hindbrain and paraxial tissues dictates neural crest migration pathways. Development 129:433–442
Treacher Collins E (1900) Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans Ophthalmol Soc UK 20:190–192
Twigg S, Kan R, Babbs C, Bochukova EG, Robertson SR, Wall SA et al (2004) Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A 101:8652–8657
Twigg SRF, Matsumoto K, Kidd AMJ, Goriely A, Taylor IB, Fisher RB et al (2006) The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet 78:999–1010
Twigg SRF, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P et al (2009) Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet 84:698–705
Twigg SRF, Lloyd D, Jenkins D, Elcioglu NE, Cooper CDO, Al-Sannaa N et al (2012) Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. Am J Hum Genet 91:897–905
Twigg SRF, Vorgia E, McGowan SJ, Preaki I, Fenwick AL, Sharma VP et al (2013) Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signalling to regulation of osteogenesis. Nat Genet 45:308–313
Van de Putte T, Franess A, Nelles L, van Grunsven LA, Huylebroeck D (2007) Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome. Hum Mol Genet 16:1423–1436
Van De Water TR, Noden DM, Maderson PFA (1988) Embryology of the ear: outer, middle and inner. Otol Med Surg 1:3–27
Van der Meulen J, Mazzola R, Stricker M, Raphael B (1990) Classification of craniofacial malformations. In: Stricker M, Van der Meulen JC, Raphael B, Mazzola R, Tolhurst DE, Murray JE (eds) Craniofacial malformations. Churchill Livingstone, Edinburgh, pp 149–309
Van der Meulen JJNM, van der Hulst R, van Adrichem LNA, Arnaud E, Chin-Song D, Duncan C et al (2009) The increase of metopic synostosis: a pan-European observation. J Craniofac Surg 20:283–286
van Gijn DR, Tucker AS, Cobourne MT (2013) Craniofacial development. Current concepts in the molecular basis of Treacher Collins syndrome. Br J Oral Maxillofac Surg 61:384–388
van Oostrom CG (1972) De initiële regionale ectoderm-ontwikkeling in het kopgebied bij de muis. Thesis, University of Amsterdam (in Dutch)
Varga ZM, Wegner J, Westerfield M (1999) Anterior movement of ventral diencephalic precursors separates the primordial eye field in the neural plate and requires cyclops. Development 126:5533–5546
Veitch E, Begbie J, Schilling TF, Smith MM, Graham A (1999) Pharyngeal arch patterning in the absence of neural crest. Curr Biol 9:1481–1484
Verloes A (2005) Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A 133A:306–308
Verloes A, Dodinval P, Beco L, Bonnivert J, Lambotte C (1990) Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality – a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. Am J Med Genet 37:119–123
Vermeij-Keers C (1972) Transformations in the facial region of the human embryo. Adv Anat Embryol Cell Biol 46:1–30
Vermeij-Keers C (1990) Craniofacial embryology and morphogenesis: normal and abnormal. In: Stricker M, van der Meulen JC, Raphael B, Mazzola R, Tolhurst DE (eds) Craniofacial malformations. Churchill-Livingstone, Edinburgh, pp 27–60
Vermeij-Keers C, Poelmann RE (1980) The neural crest: a study on cell degeneration and the improbability of cell migration in mouse embryo. Neth J Zool 30:74–81
Vermeij-Keers C, Mazzola RF, van der Meulen JC, Stricker M, Raphael B (1983) Cerebro-craniofacial and craniofacial malformations: an embryological analysis. Cleft Palate J 20:128–145
Vermeij-Keers C, Poelmann RE, Smits-van Prooije AE, van der Meulen JC (1984) Hypertelorism and the median cleft face syndrome. An embryological analysis. Ophthalmic Paediatr Genet 4:97–105
Vermeij-Keers C, Poelmann RE, Smits-van Prooije AE (1987) 6.5-mm human embryo with a single nasal placode: cyclopia or hypotelorism? Teratology 36:1–6
Vermot J, Niederreither K, Garnier JM, Chambon P, Dollé P (2003) Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Proc Natl Acad Sci U S A 100:1763–1768
Verwoerd CDA, van Oostrom CG (1979) Cephalic neural crest and placodes. Adv Anat Embryol Cell Biol 58:1–75
Vieille-Grosjean I, Hunt P, Gulisano M, Boncinelli E, Thorogood P (1997) Branchial HOX gene expression and human craniofacial development. Dev Biol 183:49–60
Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM et al (2004) Mutations in a new member of the chromodomain family cause CHARGE syndrome. Nat Genet 36:955–957
Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM et al (2011) Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet 7:e1002278
Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A (2002) A genetic link between Tbx1 and fibroblast growth factor signaling. Development 129:4605–4611
Waardenburg PJ (1951) A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 3:195–253
Wackenheim A (1967) Les dysplasies des condyles occipitaux. Ann Radiol 11:535–543
Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A et al (1999) Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 22:196–198
Wallis D, Lacbawan F, Jain M, Der kaloustian VM, Steiner CE, Moeschler JB et al (2008) Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Hum Genet A 146A:2008–2012
Webster WS, Johnston MC, Lammer EJ, Sulik KK (1986) Isotretinoin embryopathy and the cranial neural crest: an in vivo and in vitro study. J Craniofac Genet Dev Biol 6:211–222
Weller GL Jr (1933) Development of the thyroid, parathyroid and thymus glands in man. Contrib Embryol Carnegie Inst 24:93–142
Whiteford ML, Tolmie JL (1996) Holoprosencephaly in the west of Scotland 1975–1994. J Med Genet 33:578–584
Wiley MJ, Cauwenbergs P, Taylor IM (1983) Effects of retinoic acid on the development of the facial skeleton in hamsters; early changes involving neural crest cells. Acta Anat 116:180–192
Wilkie AOM (1997) Craniosynostosis: genes and mechanisms. Hum Mol Genet 6:1647–1656
Wilkie AOM, Morriss-Kay GM (2001) Genetics of craniofacial development and malformation. Nat Rev Neurosci 2:458–468
Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD et al (1995) Apert syndrome results from localized mutations of FGFGR2 and is allelic with Crouzon syndrome. Nat Genet 9:165–172
Willhite CC, Hill RM, Irving AW (1986) Isotretinoin-induced craniofacial malformations in humans and hamsters. J Craniofac Genet Dev Biol 6:193–209
Williams PL et al (eds) (1995) Gray’s anatomy, 38th edn. Churchill Livingstone, Edinburgh
Wong GB, Mulliken JB, Benacerraf BR (2001) Prenatal diagnosis of major craniofacial anomalies. Plast Reconstr Surg 108:1316–1333
Woods RH, Ul-Haq E, Wilkie AOM, Jayamohan J, Richard PG, Johnson D et al (2009) Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. Plast Reconstr Surg 123:1801–1810
Wraith JE, Super M, Watson GH, Phillips M (1985) Velo-cardio-facial syndrome presenting as holoprosencephaly. Clin Genet 27:408–410
Wright S, Wagner K (1934) Types of subnormal development of the head from inbred strains of guinea pigs and their bearing on the classification and interpretation of vertebrate monsters. Am J Anat 54:383
Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG (2000) Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. Am J Hum Genet 67:1327–1332
Wu J, Saint-Jeannet J-P, Klein PS (2003) Wnt-frizzled signaling in neural crest formation. Trends Neurosci 26:40–45
Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W (2000a) The ALX4 homeobox gene is mutated in patients with ossification defects of the skull. J Med Genet 37:916–920
Wuyts W, Reardon W, Preis S, Homfrey T, Rasore-Quartino A, Christians H et al (2000b) Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet 9:1251–1255
Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S et al (2003) Role of TBX1 in human del22q11.2 syndrome. Lancet 362:1366–1373
Yutzey KE (2010) DiGeorge syndrome, Tbx1, and retinoic acid signalling come full circle. Circ Res 106:630–632
Zhao Q, Behringer RR, DeCrombrugghe B (1996) Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. Nat Genet 13:275–283
Zuber ME, Gestri G, Viczian AS, Barsacchi G, Harris WA (2003) Specification of the vetrebrate eye by a network of eye field transcription factors. Development 130:5155–5167
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ten Donkelaar, H.J., Vermeij-Keers, C., Mathijssen, I.M.J. (2014). The Neural Crest and Craniofacial Malformations. In: Clinical Neuroembryology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54687-7_5
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