Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity.
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.
Horn
L C
LC
Institute of Pathology, Leipzig University, Leipzig, Germany. horn1@medizin.uni-leipzig.de
Faber
R
R
Meiner
A
A
Piskazeck
U
U
Spranger
J
J
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