title: Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity.
abstract: In 1988 Greenberg et al. reported an association of fetal hydrops with irregular calcification and moth-eaten skeletal dysplasia. Here, we report on the first case of this disorder accompanied by additional malformations (omphalocele, intestinal malrotation, disturbed fingernails and toes, hypolobated lungs) in a German couple without consanguinity (karyotype 46,XY). Sonograpically, the fetus was characterised by tetraphokomelia, severe generalised hydrops, pulmonal hypoplasia and hepato-splenomegaly. Greenberg dysplasia should be considered in differential diagnosis in cases with severe fetal hydrops and phokomelia on antenatal sonography.
authors: Institute of Pathology, Leipzig University, Leipzig, Germany. horn1@medizin.uni-leipzig.de
authors: L C
authors: LC
authors: Horn
authors: R
authors: R
authors: Faber
authors: A
authors: A
authors: Meiner
authors: U
authors: U
authors: Piskazeck
authors: J
authors: J
authors: Spranger
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000473:pathology; D002114:Calcinosis / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging* / Q000473:pathology; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000473:pathology; D011247:Pregnancy; D016216:Ultrasonography, Prenatal