Craniosynostosis genetics: The mystery unfolds.
Indian J Hum Genet
;
2011 May; 17(2): 48-53
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Acrocefalosindactilia
/
Humanos
/
Niño
/
Suturas Craneales
/
Craneosinostosis
/
Plagiocefalia
/
Hidrocefalia
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2011
Tipo del documento:
Artículo
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