Craniosynostosis genetics: The mystery unfolds |
| |
Authors: | Panigrahi Inusha |
| |
Institution: | Department of Pediatrics, Genetic and Metabolic Unit, Advanced Pediatric Center, PGIMER, Chandigarh, India. |
| |
Abstract: | 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. |
| |
Keywords: | Apert syndrome FGFR2 mutations hydrocephalus plagiocephaly sutural synostosis syndromes |
本文献已被 PubMed 等数据库收录! |
|