Indian Journal of Human Genetics
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REVIEW ARTICLE
Year : 2011  |  Volume : 17  |  Issue : 2  |  Page : 48-53

Craniosynostosis genetics: The mystery unfolds


Department of Pediatrics, Genetic and Metabolic Unit, Advanced Pediatric Center, PGIMER, Chandigarh, India

Correspondence Address:
Inusha Panigrahi
Genetic and Metabolic Unit, Advanced Pediatric Center, PGIMER, Sec-12, Chandigarh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.86171

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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.


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