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Familial recurrence of geleophysic dysplasia.
Am J Med Genet ; 19(3): 483-6, 1984 Nov.
Article em En | MEDLINE | ID: mdl-6507494
ABSTRACT
We describe a girl with the manifestations of geleophysic dwarfism small stature, a peculiar but pleasant and good-natured facial appearance, a dysostosis-multiplex-like bone dysplasia affecting predominantly hands and feet, hepatomegaly and stenosis, and insufficiency of the aortic valve. The proposita's sister died of heart failure at 3 years and was reported by the mother to have been a tiny child with small hands.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Limite: Child / Female / Humans Idioma: En Ano de publicação: 1984 Tipo de documento: Article
Buscar no Google
Coleções: 01-internacional Base de dados: MEDLINE Limite: Child / Female / Humans Idioma: En Ano de publicação: 1984 Tipo de documento: Article