Clinical and ultrastructural findings in three patients with geleophysic dysplasia.

  title={Clinical and ultrastructural findings in three patients with geleophysic dysplasia.},
  author={Bertram F. Pontz and Helmut St{\"o}ss and Frank Henschke and Peter Freisinger and Alfred Karbowski and Juergen Spranger},
  journal={American journal of medical genetics},
  volume={63 1},
Geleophysics dysplasia, a rare disorder with autosomal-recessive inheritance, is characterized by short stature with a "happy-looking" facial appearance. Nonskeletal findings, particularly in an advanced stage, include hepatosplenomegaly and valvular cardiopathy. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, the underlying cause of the condition is considered to be a storage defect in the metabolism of glycoproteins. The clinical course, with… CONTINUE READING


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