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Greenberg skeletal dysplasia; hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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
General
skeletal dysplasia
chondrodystrophy
Database Correlations
OMIM 215140
References
OMIM :accession 215140