Metatropic Dwarfism and its Variants (Report of six cases)

Abstract

Summary Six cases of METATROPIC DWARFISM or its VARIANTS–four which are the first Australian cases and one which is the first Indonesian case–are reported. Four of the cases had characteristic clinical and radiographic appearances whereas two, who died in early infancy, showed some variability in radiographic features. In one of the variants microscopy showed histologic features consistent with metatropic dwarfism. Microscopic, ultrastructural and biochemical studies of cartilage should be performed in all the cases of bone dysplasias in which the radiographic diagnosis is unknown or uncertain.