Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome?
Am J Med Genet
; 43(6): 946-8, 1992 Aug 01.
Article
em En
| MEDLINE
| ID: mdl-1415344
We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osso e Ossos
/
Anormalidades do Olho
/
Cardiopatias Congênitas
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1992
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Estados Unidos