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Case Reports
. 1984 Nov;19(3):487-99.
doi: 10.1002/ajmg.1320190310.

Geleophysic dysplasia

J Spranger, E F Gilbert, S Arya, G M Hoganson, J M Opitz
Case Reports

Geleophysic dysplasia

J Spranger et al. 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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