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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
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

 en Craniosynostosis genetics: The mystery unfolds
Panigrahi, Inusha


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

© Copyright 2011 Indian Journal of Human Genetics.
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