Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.
J Med Genet
; 25(2): 88-95, 1988 Feb.
Article
em En
| MEDLINE
| ID: mdl-2831368
ABSTRACT
We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality, the common occurrence of polydactyly, and the sexual ambiguity distinguishes this condition from SLO syndrome. A review of published reports supports the separate classification of this syndrome for which we propose the name lethal acrodysgenital dwarfism.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Sindactilia
/
Nanismo
/
Genitália
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
1988
Tipo de documento:
Article
País de afiliação:
França