Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity

In 1988 Greenberg ct al. reported an association of fetal hydrops with irre gular calcification and moth-eaten skeletal dysplasia. Here, we report on t he first case of this disorder accompanied by additional malformations (omp halocele, intestinal malrotation, disturbed fingernails and toes, hypolobat ed lungs) in a German couple without consanguinity (karyotype 46,XY). Sonog rapically, the fetus was characterised by tetraphokomelia, severe generalis ed hydrops, pulmonal hypoplasia and hepato-splenomegaly, Greenberg dysplasi a should be considered in differential diagnosis in cases with severe fetal hydrops and phokomelia on antenatal sonography. Copyright (C) 2000 John Wi ley & Sons, Ltd.