Greenberg skeletal dysplasia; hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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Epidemiology
rare
Pathology
- chondrodystrophy
- marked disorganization of chondro-osseous calcification
Genetics
- autosomal recessive
- associated with defects in LBR
Clinical manifestations
- early in utero lethality, nonviable fetus
- fetus typically presents with fetal hydrops, short-limbed dwarfism
- fetus may present with polydactyly & additional nonskeletal malformations