HYDROPS-ECTOPIC CALCIFICATION - MOTH-EATEN SKELETAL DYSPLASIA (GREENBERG DYSPLASIA) - PRENATAL-DIAGNOSIS AND FURTHER DELINEATION OF A RARE GENETIC DISORDER

An offspring of consanguineous parents of East-Indian origin was found prenatally to have hydrops fetalis, short limb dwarfism, polydactyly and chondro-osseous changes consistent with Greenberg hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) dysplasia. The radio logical changes include platyspondyly with multiple extra ossification centers, extraneous calcification in the ribs, sternum, pelvis, and e piphysis, and moth-eaten long bones. The histopathological changes inc luded chondrocytes with dilated rough endoplasmic reticulum and inclus ion bodies with homogeneous material of intermediate electron density. These findings further delineate the spectrum of this rare autosomal recessive skeletal dysplasia. (C) 1993 Wiley-Liss, Inc.