Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): genetic heterogeneity or autosomal dominant locus with at least two different allelic forms?
Am J Med Genet
; 34(4): 548-51, 1989 Dec.
Article
en En
| MEDLINE
| ID: mdl-2624267
We describe a boy with mild manifestations of the Bannayan-Zonana syndrome (BZS): large scaphocephalic head with marked frontal bossing, hypertrophy on the right side of the body, large and irregular café-au-lait spots, and cutaneous telangiectasia on large parts of the body and a cavernous hemangioma on the internal side of the left leg; soft cutaneous masses were present in the left axilla and inner part of the left arm; hypotonia and mild neurologic dysfunction were also present. BZS is reported as an autosomal dominant condition with variable expressivity; analysis of our data and those reported in the literature suggest that the interfamilial variability observed might represent different allelic mutations, or genetic heterogeneity.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Genes Dominantes
/
Cabeza
/
Hemangioma
/
Lipoma
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1989
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
Estados Unidos