Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.
Open Access
- 1 January 1988
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 25 (1) , 32-36
- https://doi.org/10.1136/jmg.25.1.32
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.This publication has 12 references indexed in Scilit:
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