Lipson A H, Kan A E, Kozlowski K
Birth Defects Unit, Children's Hospital, Camperdown, Sydney, Australia.
Am J Med Genet Suppl. 1987;3:181-9. doi: 10.1002/ajmg.1320280522.
"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.
