Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage.
"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.
D002648:Child; D004392:Dwarfism / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D005808:Genes, Recessive; D006023:Glycoproteins / Q000378:metabolism*; D006801:Humans; D008099:Liver / Q000648:ultrastructure; D008297:Male
D006023:Glycoproteins