2. Academic Validation
  3. Geleophysic dysplasia

Geleophysic dysplasia

  • Am J Med Genet. 1984 Nov;19(3):487-99. doi: 10.1002/ajmg.1320190310.
J Spranger,  E F Gilbert,  S Arya,  G M Hoganson,  J M Opitz
PMID: 6507495 DOI: 10.1002/ajmg.1320190310
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.

Figures