Greenberg syndrome
MIM.215140 1q42.1
Hydrops-ectopic calcification-"moth-eaten" (HEM), Greenberg skeletal dysplasia, hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg's skeletal dysplasia is an autosomal recessive chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification.
Etiology
3beta-hydroxysterol delta(14)-reductase deficiency due to mutations in the LBR gene coding for lamin B receptor gene.
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