Autosomal recessive Robinow syndrome.
Am J Med Genet
; 35(1): 64-8, 1990 Jan.
Article
em En
| MEDLINE
| ID: mdl-2301471
ABSTRACT
Two brothers of normal first-cousin parents were found to have Robinow syndrome. Their paternal uncle also married a first cousin and had 3 similarly affected children (2 boys, 1 girl). The 2 affected brothers had short stature, mesomelic and acromelic brachymelia, characteristic face with hypertelorism, wide palpebral fissures, midface hypoplasia and large mouth, and hypogenitalism. Parental consanguinity and affected individuals in 2 sibships of common ancestry strongly suggest autosomal recessive inheritance. Similar cases from the literature are briefly reviewed.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Doenças do Desenvolvimento Ósseo
/
Expressão Facial
/
Genes Recessivos
/
Genitália Masculina
/
Transtornos do Crescimento
/
Hipertelorismo
Limite:
Child
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1990
Tipo de documento:
Article