Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
Vol. 17, No. 2, 2011, pp. 48-53
Bioline Code: hg11013
Full paper language: English
Document type: Review Article
Document available free of charge
Indian Journal of Human Genetics, Vol. 17, No. 2, 2011, pp. 48-53
© Copyright 2011 Indian Journal of Human Genetics.
Craniosynostosis genetics: The mystery unfolds|
Craniosynsostosis syndromes exhibit considerable phenotypic and genetic heterogeneity. Sagittal synostosis is common form of isolated craniosynostosis. The sutures involved, the shape of the skull and associated malformations give a clue to the specific diagnosis. Crouzon syndrome is one of the most common of the craniosynostosis syndromes. Apert syndrome accounts for 4.5% of all craniosynostoses and is one of the most serious of these syndromes. Most syndromic craniosynostosis require multidisciplinary management. The following review provides a brief appraisal of the various genes involved in craniosynostosis syndromes, and an approach to diagnosis and genetic counseling.
Apert syndrome, FGFR2 mutations, hydrocephalus, plagiocephaly, sutural synostosis, syndromes
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