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.

Cite this paper

@article{Horn2000GreenbergDF, title={Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity.}, author={Lars-Christian Horn and Renaldo Faber and Annechristin Meiner and U Piskazeck and Joachim Spranger}, journal={Prenatal diagnosis}, year={2000}, volume={20 12}, pages={1008-11} }