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Diagnostic imaging in the management of craniosynostoses

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Abstract

Craniosynostoses are the most frequent craniofacial malformations. However, with a prevalence of 3–6 cases per 10,000 live births they are amongst the rarely seen diseases and their definite diagnosis thus poses a challenge to the physician. When an abnormal calvarial configuration is detected, a radiological evaluation is necessary to characterize the deformity and to guide the corrective surgical procedure. The demand for clear diagnostic criteria is justified by the severity of the disease and the possible consequences of delayed diagnosis. In addition to the clinical signs (deformation of the head), conventional skull X-rays show typical radiological alterations and are used for basic diagnostics. Diagnostic tests that may be performed to confirm the diagnosis and assess the extent of the problem, include computed tomography (CT), 3D-CT, magnetic resonance imaging (MRI) scans, and ultrasonography. In the present review we will describe the most important clinical and radiological characteristics of craniosynostosis by means of clinical, radiological and operative situs examples.

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References

  1. Shuper A, Merlob P, Grunebaum M, Reisner SH (1985) The incidence of isolated craniosynostosis in the newborn infant. Am J Dis Child 139:85–86

    PubMed  CAS  Google Scholar 

  2. French LR, Jackson IT, Melton LJ 3rd (1990) A population-based study of craniosynostosis. J Clin Epidemiol 43:69–73

    Article  PubMed  CAS  Google Scholar 

  3. Cohen MM Jr (1997) The child with multiple birth defects, 2nd edn. Oxford University Press, New York

    Google Scholar 

  4. Singer S, Bower C, Southall P, Goldblatt J (1999) Craniosynostosis in Western Australia, 1980–1994: a population-based study. Am J Med Genet 83:382–387

    Article  PubMed  CAS  Google Scholar 

  5. Virchow R (1851) Über den Cretinismus, namentlich in Franken und über pathologische Schädelformen. Verh Phys Med Ges Würzburg 2:230–271

    Google Scholar 

  6. Thompson DN, Malcolm GP, Jones BM, Harkness WJ, Hayward RD (1995) Intracranial pressure in single-suture craniosynostosis. Pediatr Neurosurg 22:235–240

    PubMed  CAS  Google Scholar 

  7. Büsse M (1996) Kraniosynostosen-neuropädiatrische Aspekte. Dtsch Z Mund Kiefer GesichtsChir 20:240–244

    Google Scholar 

  8. Crouzon O (1912) Dysostose cranio-faciale héréditaire. Paris Bull Soc Med Hop 33:545–555

    Google Scholar 

  9. Apert E (1906) De l’acrocéphalosyndactylie. Bull Med Soc Hop Paris 23:1310–1330

    Google Scholar 

  10. Chotzen F (1932) Eine eigenartige familiäre Entwicklungsstörung (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus). Monatsschr Kinderheilk 55:97–122

    Google Scholar 

  11. Cohen MM (1986) Syndromes with craniosynostosis. In: Cohen MM (ed) Craniosynostosis: diagnosis, evaluation and management. Raven Press, New York, pp 59–80

    Google Scholar 

  12. Pfeiffer RA (1964) Dominant erbliche Akrocephalosyndaktylie. Z Kinderheilk 90:301–320

    Article  PubMed  CAS  Google Scholar 

  13. Saethre H (1931) Ein Beitrag zum Turmschädelproblem (Pathogenese, Erblichkeit und Symptomatologie). Z Nervenheilk 117:533–555

    Article  Google Scholar 

  14. Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB (1993) A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75:443–450

    Article  PubMed  CAS  Google Scholar 

  15. Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW (1997) Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 15:36–41

    Article  PubMed  Google Scholar 

  16. El Ghouzzi V, Legeai-Mallet L, Benoist-Lasselin C, Lajeunie E, Renier D, Munnich A, Bonaventure J (2001) Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. FEBS Lett 492:112–118

    Article  PubMed  Google Scholar 

  17. Ornitz DM (2001) Regulation of chondrocyte growth and differentiation by fibroblast growth factor receptor. 3rd Novartis Found Symp 232:63–76

    CAS  Google Scholar 

  18. Wilkie AOM (2005) Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. Cytokine Growth Factor Rev 16:187–203

    Article  PubMed  CAS  Google Scholar 

  19. Aviv RI, Rodger E, Hall CM (2002) Craniosynostosis. Clin Radiol 57:93–102

    Article  PubMed  CAS  Google Scholar 

  20. Tessier P (1967) Osteotomies totales de la face: syndrome de Crouzon, syndrome d’Apert; oxycéphalies, scapocéphalies, turricéphalies. Ann Chir Plast 12:273

    PubMed  CAS  Google Scholar 

  21. Marchac D, Renier D (1982) Craniofacial surgery for craniosynostosis. Little, Brown and Co, Boston

    Google Scholar 

  22. Mühling J (1995) Kraniofaziale Chirurgie. In: Hausamen JE, Machtens E, Reuther J (Hrsg) Kirschnersche allgemeine und spezielle Operationslehre. Mund-Kiefer-Gesichtschirurgie. Springer, Berlin Heidelberg New York, pp 403–426

    Google Scholar 

  23. Mühling J, Collmann H, Reuther J, Sörensen N (1989) Functional and anatomic aspects of the orbitotomy in craniofacial surgery. Neurosurg Rev 12:21–23

    Article  PubMed  Google Scholar 

  24. Mühling J, Reuther J, Sörensen NJ (1987) Therapy for severe craniostenoses. In: Marchac D (ed) Craniofacial surgery. Springer, Berlin Heidelberg New York, p 88

    Google Scholar 

  25. Mühling J, Reuther J, Collmann H, Sörensen N (1991) Principle of osteotomy for craniosynostoses. In: Pfeifer G (ed) Craniofacial abnormalities and clefts of the lip, alveolus and palate: interdisciplinary teamwork: principles of treatment, long-term results. 4th Hamburg International Symposium. Thieme, Stuttgart, pp 52–55

    Google Scholar 

  26. Benson ML, Oliverio PJ, Yue NC, Zinreich SJ (1996) Primary craniosynostosis: imaging features. AJR Am J Roentgenol 166:697–703

    PubMed  CAS  Google Scholar 

  27. Tuite GF, Evanson J, Chong WK, Thompson DN, Harkness WF, Jones BM, Hayward RD (1996) The beaten copper cranium: a correlation between intracranial pressure, cranial radiographs, and computed tomographic scans in children with craniosynostosis. Neurosurgery 39:691–699

    Article  PubMed  CAS  Google Scholar 

  28. Fernbach SK, Naidich TP (1986) Radiological evaluation of craniosynostosis. In: Cohen MM Jr (ed) Craniosynostosis: diagnosis, evaluation, and management. Raven Press, New York, pp 191–214

    Google Scholar 

  29. Bruneteau RJ, Mulliken JB (1992) Frontal plagiocephaly: synostotic, compensational, or deformational. Plast Reconstr Surg 89:21–31

    PubMed  CAS  Google Scholar 

  30. Larsen PD, Osborn AG (1982) Computed tomographic evaluation of corpus callosum agenesis and associated malformations. J Comput Tomogr 6:225–230

    Article  PubMed  CAS  Google Scholar 

  31. Noetzel MJ, Marsh JL, Palkes H, Gado M (1985) Hydrocephalus and mental retardation in craniosynostosis. J Pediatr 107:885–892

    Article  PubMed  CAS  Google Scholar 

  32. Tartaro A, Larici AR, Antonucci D, Merlino B, Colosimo C, Bonomo L (1998) Optimization and diagnostic accuracy of computerized tomography with tridimensional spiral technique in the study of craniostenosis. Radiol Med (Torino) 96:10–17

    CAS  Google Scholar 

  33. Ghali GE, Sinn DP, Tantipasawasin S (2002) Management of nonsyndromic craniosynostosis. Atlas Oral Maxillofac Surg Clin North Am 10:1–41

    Article  PubMed  CAS  Google Scholar 

  34. Flohr TG, Schaller S, Stierstorfer K, Bruder H, Ohnesorge BM, Schoepf UJ (2005) Multi-detector row CT systems and image-reconstruction techniques. Radiology 235:756–773

    Article  PubMed  Google Scholar 

  35. Paulson E, Yoshizumi T, Frush D, Johnson G (2001) Multi-detector vs. single-detector CT: the organ doses are higher than you think. Paper presented at: Radiological Society of North America annual meeting, November 27, Chicago

  36. Brenner D et al (2001) Estimated risks of radiation-induced fatal cancer from pediatric CT. Am J Roentgenol 176:289–296

    CAS  Google Scholar 

  37. Tokumaru AM, Barkovich AJ, Ciricillo SF, Edwards MS (1996) Skull base and calvarial deformities: association with intracranial changes in craniofacial syndromes. AJNR Am J Neuroradiol 17:619–630

    PubMed  CAS  Google Scholar 

  38. Thompson DN, Malcolm GP, Jones BM, Harkness WJ, Hayward RD (1995) Intracranial pressure in single-suture craniosynostosis. Pediatr Neurosurg 22:235–240

    Article  PubMed  CAS  Google Scholar 

  39. Collmann H, Sorensen N, Krauss J (2005) Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst 21:902–912

    Article  PubMed  CAS  Google Scholar 

  40. Fellows-Mayle W, Hitchens TK, Simplaceanu E, Horner J, Barbano T, Nakaya K, Losee JE, Losken HW, Siegel MI, Mooney MP (2005) Age-related changes in lateral ventricle morphology in craniosynostotic rabbits using magnetic resonance imaging. Childs Nerv Syst 21:385–391

    Article  PubMed  Google Scholar 

  41. Aldridge K, Marsh JL, Govier D, Richtsmeier JT (2002) Central nervous system phenotypes in craniosynostosis. J Anat 201:31–39

    Article  PubMed  Google Scholar 

  42. Sze RW, Parisi MT, Sidhu M, Paladin AM, Ngo AV, Seidel KD, Weinberger E, Ellenbogen RG, Gruss JS, Cunningham ML (2003) Ultrasound screening of the lambdoid suture in the child with posterior plagiocephaly. Pediatr Radiol 33:630–636

    Article  PubMed  Google Scholar 

  43. Soboleski D, McCloskey D, Mussari B, Sauerbrei E, Clarke M, Fletcher A (1997) Sonography of normal cranial sutures. AJR Am J Roentgenol 168:819–821

    PubMed  CAS  Google Scholar 

  44. Stelnicki EJ, Mooney MP, Losken HW, Zoldos J, Burrows AM, Kapucu R, Siegel MI (1997) Ultrasonic prenatal diagnosis of coronal suture synostosis. J Craniofac Surg 8:252–258

    PubMed  CAS  Google Scholar 

  45. Miller C, Losken HW, Towbin R, Bowen A, Mooney MP, Towbin A, Faix RS (2002) Ultrasound diagnosis of craniosynostosis. Cleft Palate Craniofac J 39:73–80

    Article  PubMed  Google Scholar 

  46. Cohen MM Jr (2000) Epidemiology of craniosynostosis. In: Cohen MM Jr, MacLean RE (eds) Craniosynostosis, 2nd edn. Oxford University Press, New York, pp 112–118

    Google Scholar 

  47. Lajeunie E, Le Merrer M, Bonaiti-Pellie C, Marchac D, Renier D (1996) Genetic study of scaphocephaly. Am J Med Genet 62:282–285

    Article  PubMed  CAS  Google Scholar 

  48. Kaiser G (1988) Sagittal synostosis-its clinical significance and the results of three different methods of craniectomy. Childs Nerv Syst 4:223–230

    Article  PubMed  CAS  Google Scholar 

  49. Bellew M, Chumas P, Mueller R, Liddington M, Russell J (2005) Pre- and postoperative developmental attainment in sagittal synostosis. Arch Dis Child 9:346–350

    Article  Google Scholar 

  50. Carmel PW, Luken MG 3rd, Ascherl GF Jr (1981) Craniosynostosis: computed tomographic evaluation of skull base and calvarial deformities and associated intracranial changes. Neurosurgery 9:366–372

    Article  PubMed  CAS  Google Scholar 

  51. Posnick JC, Lin KY, Chen P, Armstrong D (1993) Sagittal synostosis: quantitative assessment of presenting deformity and surgical results based on CT scans. Plast Reconstr Surg 92:1015–1024

    PubMed  CAS  Google Scholar 

  52. Golabi M, Edwards MS, Ousterhout DK (1987) Craniosynostosis and hydrocephalus. Neurosurgery 21:63–67

    Article  PubMed  CAS  Google Scholar 

  53. Anderson FM, Geiger L (1965) Craniosynostosis: a survey of 204 cases. J Neurosurg 22:229–240

    PubMed  CAS  Google Scholar 

  54. Arnaud E, Renier D, Marchac D (1995) Prognosis for mental function in scaphocephaly. J Neurosurg 83:476–479

    PubMed  CAS  Google Scholar 

  55. Lajeunie E, Le Merrer M, Marchac D, Renier D (1998) Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. Am J Med Genet 75:211–215

    Article  PubMed  CAS  Google Scholar 

  56. Posnick JC, Lin KY, Chen P, Armstrong D (1994) Metopic synostosis: quantitative assessment of presenting deformity and surgical results based on CT scans. Plast Reconstr Surg 93:16–24

    Article  PubMed  CAS  Google Scholar 

  57. Waitzman AA, Posnick JC, Armstrong DC, Pron GE (1992) Craniofacial skeletal measurements based on computed tomography: Part I. Accuracy and reproducibility. Cleft Palate Craniofac J 29:112–117

    Article  PubMed  CAS  Google Scholar 

  58. Renier D, Sainte-Rose C, Marchac D, Hirsch JF (1982) Intracranial pressure in craniostenosis. J Neurosurg 57:370–377

    PubMed  CAS  Google Scholar 

  59. Kapp-Simon KA, Figueroa A, Jocher CA, Schafer M (1993) Longitudinal assessment of mental development in infants with nonsyndromic craniosynostosis with and without cranial release and reconstruction. Plast Reconstr Surg 92:831–839

    Article  PubMed  CAS  Google Scholar 

  60. Cohen MM Jr (1979) Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating. Birth Defects Orig Artic Ser 15(5B):13–63

    PubMed  Google Scholar 

  61. Cohen MM Jr (1986) The etiology of craniosynostosis. In: Cohen MM Jr (ed) Craniosynostosis: diagnosis, evaluation and management. Raven Press, New York, pp 65–66

    Google Scholar 

  62. Faure C, Bonamy P, Rambert-Misset C (1967) Craniostenoses due to unilateral premature fusion of the coronal suture. J Radiol Electrol Med Nucl 48:307–309

    PubMed  CAS  Google Scholar 

  63. Vannier MW, Hildebolt CF, Marsh JL, Pilgram TK, McAlister WH, Shackelford GD, Offutt CJ, Knapp RH (1989) Craniosynostosis: diagnostic value of three-dimensional CT reconstruction. Radiology 173:669–673

    PubMed  CAS  Google Scholar 

  64. Lo LJ, Marsh JL, Pilgram TK, Vannier MW (1996) Plagiocephaly: differential diagnosis based on endocranial morphology. Plast Reconstr Surg 97:282–291

    Article  PubMed  CAS  Google Scholar 

  65. Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D (1998) Hydrocephalus and craniosynostosis. J Neurosurg 88:209–214

    PubMed  CAS  Google Scholar 

  66. McArdle CB, Richardson CJ, Nicholas DA, Mirfakhraee M, Hayden CK, Amparo EG (1987) Developmental features of the neonatal brain: MR imaging. Part II. Ventricular size and extracerebral space. Radiology 162:230–234

    PubMed  CAS  Google Scholar 

  67. Huang MH, Gruss JS, Clarren SK, Mouradian WE, Cunningham ML, Roberts TS, Loeser JD, Cornell CJ (1996) The differential diagnosis of posterior plagiocephaly: true lambdoid synostosis versus positional molding. Plast Reconstr Surg 98:765–774

    Article  PubMed  CAS  Google Scholar 

  68. David DJ, Menard RM (2000) Occipital plagiocephaly. Br J Plast Surg 53:367–377

    Article  PubMed  CAS  Google Scholar 

  69. Muakkassa KF, Hoffman HJ, Hinton DR, Hendrick EB, Humphreys RP, Ash J (1984) Lambdoid synostosis. Part 2: review of cases managed at The Hospital for Sick Children, 1972–1982. J Neurosurg 61:340–347

    Article  PubMed  CAS  Google Scholar 

  70. Mulliken JB, Vander Woude DL, Hansen M, LaBrie RA, Scott RM (1999) Analysis of posterior plagiocephaly: deformational versus synostotic. Plast Reconstr Surg 103:371–380

    Article  PubMed  CAS  Google Scholar 

  71. Cinalli G, Spennato P, Sainte-Rose C, Arnaud E, Aliberti F, Brunelle F, Cianciulli E, Renier D (2005) Chiari malformation in craniosynostosis. Childs Nerv Syst 21:889–901

    Article  PubMed  Google Scholar 

  72. Lupescu I, Hermier M, Georgescu SA, Froment JC (2000) Spiral CT evaluation of the craniosynostoses. J Neuroradiol 27:128–139

    PubMed  CAS  Google Scholar 

  73. Furuya Y, Edwards MS, Alpers CE, Tress BM, Ousterhout DK, Norman D (1984) Computerized tomography of cranial sutures. Part 1: comparison of suture anatomy in children and adults. J Neurosurg 61:53–58

    Article  PubMed  CAS  Google Scholar 

  74. Gellad FE, Haney PJ, Sun JC, Robinson WL, Rao KC, Johnston GS (1985) Imaging modalities of craniosynostosis with surgical and pathological correlation. Pediatr Radiol 15:285–290

    Article  PubMed  CAS  Google Scholar 

  75. Cerovac S, Neil-Dwyer JG, Rich P, Jones BM, Hayward RD (2002) Are routine preoperative CT scans necessary in the management of single suture craniosynostosis? Br J Neurosurg 16:348–354

    Article  PubMed  CAS  Google Scholar 

  76. Fearon T, Vucich J (1987) Normalized pediatric organ-absorbed doses from CT examinations. AJR Am J Roentgenol 148:171–174

    PubMed  CAS  Google Scholar 

  77. Huda W, Atherton JV, Ware DE, Cumming WA (1997) An approach for the estimation of effective radiation dose at CT in pediatric patients. Radiology 203:417–422

    PubMed  CAS  Google Scholar 

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Kotrikova, B., Krempien, R., Freier, K. et al. Diagnostic imaging in the management of craniosynostoses. Eur Radiol 17, 1968–1978 (2007). https://doi.org/10.1007/s00330-006-0520-y

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