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Am J Med Genet. 1984 Nov;19(3):483-6.

Familial recurrence of geleophysic dysplasia.

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.

PMID:
6507494
[PubMed - indexed for MEDLINE]
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