Geleophysic dysplasia
J Spranger, EF Gilbert, S Arya… - American journal of …, 1984 - Wiley Online Library
J Spranger, EF Gilbert, S Arya, GMI Hoganson, JM Opitz
American journal of medical genetics, 1984•Wiley Online LibraryOn 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.
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.
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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