| REVIEW ARTICLE |
|
| Year : 2011 | Volume
: 17
| Issue : 2 | Page : 48-53 |
|
|
Craniosynostosis genetics: The mystery unfolds
Inusha Panigrahi
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
DOI: 10.4103/0971-6866.86171 PMID: 22090712
|
|
|
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.
|
|
|
|
| [FULL TEXT] [PDF]* |
|
 |
|
