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

Citation
Lc. Horn et al., Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity, PRENAT DIAG, 20(12), 2000, pp. 1008-1011
Citations number
13
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Journal title
PRENATAL DIAGNOSIS
ISSN journal
0197-3851 → ACNP
Volume
20
Issue
12
Year of publication
2000
Pages
1008 - 1011
Database
ISI
SICI code
0197-3851(200012)20:12<1008:GDFRCW>2.0.ZU;2-1
Abstract
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.