Familial bilateral blepharoptosis and subvalvular aortic stenosis.
Genet Couns
; 6(3): 227-32, 1995.
Article
em En
| MEDLINE
| ID: mdl-8588851
ABSTRACT
A boy and his mother with bilateral congenital blepharoptosis, downslanting palpebral fissures, hypertelorism, microcephaly, short nose with flattened nasal root, microstomia, prominent lateral palatine ridges, bifid (boy) hypoplastic (mother) uvula, generalized dental caries, short neck, peculiar voice and mild conductive deafness are reported. The boy had subvalvular aortic stenosis. The mother had pectus excavatum but not any signs or symptoms of cardiovascular defect.
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Base de dados:
MEDLINE
Assunto principal:
Estenose Aórtica Subvalvar
/
Anormalidades Múltiplas
/
Blefaroptose
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article