Craniosynostosis genetics: The mystery unfolds.
Indian J Hum Genet
; 2011 May; 17(2): 48-53
Article
in En
| IMSEAR
| ID: sea-138934
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.
Key words
Full text:
1
Index:
IMSEAR
Main subject:
Acrocephalosyndactylia
/
Humans
/
Child
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Cranial Sutures
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Craniosynostoses
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Plagiocephaly
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Hydrocephalus
Language:
En
Journal:
Indian J Hum Genet
Year:
2011
Type:
Article