Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage

Am J Med Genet Suppl. 1987;3:181-9. doi: 10.1002/ajmg.1320280522.

Abstract

"Geleophysic" dysplasia is a rare autosomal recessive disorder, probably of glycoprotein metabolism, which shares some clinical and roentgenological manifestations with acromicric dysplasia. We report the clinical, radiological, and pathological data of a patient with the typical picture of progressive growth delay; mild facial anomalies; small, abnormal hands; hepatosplenomegaly; and progressive cardiac valvular lesions. Electron microscopy of a liver biopsy showed similar and additional changes to those published previously.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Dwarfism / genetics
  • Dwarfism / metabolism*
  • Dwarfism / pathology
  • Genes, Recessive
  • Glycoproteins / metabolism*
  • Humans
  • Liver / ultrastructure
  • Male

Substances

  • Glycoproteins