References
Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M (1996) Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174–176
Biesalski HK, Weiser H (1989) Sensitive analysis of retinyl esters by isocratic adsorption chromatography. J Clin Chem Clin Biochem 27:65–74
Boulet SL, Rasmussen SA, Honein MA (2008) A population-based study of craniosynostosis in metropolitan Atlanta, 1989–2003. Am J Med Genet A 146A:984–991
Cohen MM Jr (1996) Craniosynostoses: phenotypic/molecular correlations. Am J Med Genet 61:98
Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM (1996) Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet 12:390–397
de Jong T, Bannink N, Bredero-Boelhouwer HH, van Veelen ML, Bartels MC, Hoeve LJ, Hoogeboom AJ, Wolvius EB, Lequin MH, van der Meulen JJ, van Adrichem LN, Vaandrager JM, Ongkosuwito EM, Joosten KF, Mathijssen IM (2010) Long-term functional outcome in 167 patients with syndromic craniosynostosis: defining a syndrome-specific risk profile. J Plast Reconstr Aesthet Surg 63:1635–1641
Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P (1996) Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84:911–921
Digre K, Warner J (2005) Is vitamin A implicated in the pathophysiology of increased intracranial pressure? Neurology 64:1827
Donahue SP (2000) Recurrence of idiopathic intracranial hypertension after weight loss: the carrot craver. Am J Ophthalmol 130:850–851
Frenz DA, Liu W, Cvekl A, Xie Q, Wassef L, Quadro L, Niederreither K, Maconochie M, Shanske A (2010) Retinoid signaling in inner ear development: a “Goldilocks” phenomenon. Am J Med Genet A 152A:2947–2961
Friedman DI (2005) Medication-induced intracranial hypertension in dermatology. Am J Clin Dermatol 6:29–37
Gerster H (1997) Vitamin A-functions, dietary requirements and safety in humans. Int J Vitam Nutr Res 67:71–90
Jacobson DM, Berg R, Wall M, Digre KB, Corbett JJ, Ellefson RD (1999) Serum vitamin A concentration is elevated in idiopathic intracranial hypertension. Neurology 53:1114–1118
Leung AK (1989) Benign carotenemia in children. Can Fam Physician 35:81–83
Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, Muenke M, Wilkie AO (1997) Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 349:1059–1062
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, Zackai EH (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
Nishimura Y, Ishii N, Sugita Y, Nakajima H (1998) A case of carotenodermia caused by a diet of the dried seaweed called nori. J Dermatol 25:685–687
Peters K, Ornitz D, Werner S, Williams L (1993) Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis. Dev Biol 155:423–430
Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO (2004) Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. Hum Genet 115:200–207
Romand R, Hashino E, Dollé P, Vonesch JL, Chambon P, Ghyselinck NB (2002) The retinoic acid receptors RARalpha and RARgamma are required for inner ear development. Mech Dev 119:213–223
Romand R, Dollé P, Hashino E (2006) Retinoid signaling in inner ear development. J Neurobiol 66:687–704
Saltzman MD, King EC (2007) Central physeal arrests as a manifestation of hypervitaminosis A. J Pediatr Orthop 27:351–353
Schimmang T (2007) Expression and functions of FGF ligands during early otic development. Int J Dev Biol 51:473–481
Sheng N, Xie Z, Wang C, Bai G, Zhang K, Zhu Q, Song J, Guillemot F, Chen YG, Lin A, Jing N (2010) Retinoic acid regulates bone morphogenic protein signal duration by promoting the degradation of phosphorylated Smad1. Proc Natl Acad Sci USA 107:18886–18891
Shim K (2006) The auditory sensory epithelium: the instrument of sound perception. Int J Biochem Cell Biol 38:1827–1833
Takita Y, Ichimiya M, Hamamoto Y, Muto M (2006) A case of carotenemia associated with ingestion of nutrient supplements. J Dermatol 33:132–134
Tanya AS, Erik S (2004) Carotenemia associated with green bean ingestion. Pediat Dermatol 21:657–659
Thomas GP, Wilkie AO, Richards PG, Wall SA (2005) FGFR3 P250R mutation increases the risk of reoperation in apparent ‘nonsyndromic’ coronal craniosynostosis. J Craniofac Surg 16:347–352
Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA (2010) Prevalence and complications of single gene and chromosomal disorders in craniosynostosis. Pediatrics 126:e391–e400
Wright TJ, Mansour SL (2003) FGF signaling in ear development and innervation. Curr Top Dev Biol 57:225–259
Zhang W, Deng ZL, Chen L, Zuo GW, Luo Q, Shi Q, Zhang BQ, Wagner ER, Rastegar F, Kim SH, Jiang W, Shen J, Huang E, Gao Y, Gao JL, Zhou JZ, Luo J, Huang J, Luo X, Bi Y, Su Y, Yang K, Liu H, Luu HH, Haydon RC, He TC, He BC (2010) Retinoic acids potentiate BMP9-induced osteogenic differentiation of mesenchymal progenitor cells. PLoS One 5:e11917
Acknowledgements
We would like to express our gratitude to the patient described in this article and the patient’s family for their willingness to participate in our study and for their informed consent to participate in our study and to publish this report. We also thank those who played a role in the care of this patient, including Dr. Douglas Courtemanche of the Division of Plastic Surgery, University of British Columbia. This research was supported by the Division of Intramural Research at the National Human Genome Research Institute (National Institutes of Health, Department of Health and Human Services, USA).
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Agochukwu, N.B., Solomon, B.D., Zajaczkowska-Kielska, A. et al. Genetic–environmental interaction in a unique case of Muenke syndrome with intracranial hypertension. Childs Nerv Syst 27, 2183–2186 (2011). https://doi.org/10.1007/s00381-011-1595-6
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DOI: https://doi.org/10.1007/s00381-011-1595-6