Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.
J Med Genet
; 25(1): 32-6, 1988 Jan.
Article
em En
| MEDLINE
| ID: mdl-3351889
ABSTRACT
We report a sibship of two brothers and one sister with the osteoporosis-pseudoglioma syndrome and congenital heart disease. They presented in infancy with visual impairment and psychomotor retardation. Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, and ventricular septal defect. Parental consanguinity and affected sibs of both sexes strongly suggested autosomal recessive inheritance. Analysis of the present and previously reported cases showed a wide range of interfamilial variability which may point to the existence of multiple allelism or genetic heterogeneity in this syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Child, preschool
/
Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
1988
Tipo de documento:
Article