Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
| Hydrops-ectopic calcification-moth-eaten skeletal dysplasia | |
|---|---|
| Other names | Greenberg dysplasia, HEM dysplasia, autosomal recessive lethal chondrodystrophy with congenital hydrops |
| Child with hydrops-ectopic calcification-moth-eaten skeletal dysplasia | |
| Specialty | Medical genetics |
| Differential diagnosis | severe hydrops fetalis, phokomelia on antenatal songraphy |
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. Greenberg characterized the condition in 1988.
It has been associated with the lamin B receptor.