Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.
Am J Med Genet
; 86(3): 215-8, 1999 Sep 17.
Article
en En
| MEDLINE
| ID: mdl-10482868
ABSTRACT
We report on a follow-up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Displasia Retiniana
/
Coroides
/
Linfedema
/
Microcefalia
Límite:
Adolescent
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1999
Tipo del documento:
Article
País de afiliación:
Estados Unidos