HEM skeletal dysplasia
Definition:
Hydrops ectopic calcification-moth-eaten (HEM) or Greenberg skeletal dysplasia is a lethal chondrodystrophy characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. It is inherited as an autosomal recessive trait. Homozygous mutation in LBR is the cause of HEM/Greenberg skeletal dysplasia.
References:
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[1]. Hans R Waterham, et al. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet. 2003 Apr;72(4):1013-7. [Content Brief]
[2]. Howard J Worman, et al. "Laminopathies": a wide spectrum of human diseases. Exp Cell Res. 2007 Jun 10;313(10):2121-33. [Content Brief]
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