Greenberg dysplasia


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Greenberg dysplasia

A rare autosomal recessive chondrodystrophy (OMIM:215140) characterised by early in utero lethality. Affected foetuses present with hydrops, short-limbed dwarfism and a marked disorganisation of chondro-osseous calcification; they may present with polydactyly and other nonskeletal malformations.

Molecular pathology
Caused by defects in LBR, which encodes lamin B receptor (thought to mediate interaction between chromatin and lamin B).