Case Reports
doi: 10.1002/ajmg.1320190310.
Geleophysic dysplasia
- PMID: 6507495
- DOI: 10.1002/ajmg.1320190310
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Case Reports
Geleophysic dysplasia
Am J Med Genet.
1984 Nov.
Abstract
On the basis of three affected sibs and one isolated case from the literature geleophysic dysplasia is defined as an acrofacial dysplasia with a peculiar, good-natured facial appearance, short hands and feet due to short, plump tubular bones, small stature, and progressive valvular cardiac disease. It seems to be a hereditary disorder of glycoprotein metabolism with autosomal recessive transmission.
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