Article
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.
American journal of medical genetics - 15 Aug 1993
Chitayat D, Gruber H, Mullen B J, Pauzner D, Costa T, Lachman R, Rimoin D L
Abstract excerpt
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 radiological changes i...
Topics
- Abnormalities, Multiple
- Bone and Bones
- Cartilage
- Dwarfism
- Female
- Fetal Diseases
- Genes, Lethal
- Genes, Recessive
- Growth Plate
- Hand Deformities, Congenital
- Humans
- Hydrops Fetalis
- Lymphangioma, Cystic
- Male
- Microscopy, Electron, Scanning
- Osteochondrodysplasias
- Phenotype
- Polydactyly