Prenatal features of Noonan syndrome

Citation
Dl. Nisbet et al., Prenatal features of Noonan syndrome, PRENAT DIAG, 19(7), 1999, pp. 642-647
Citations number
21
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Journal title
PRENATAL DIAGNOSIS
ISSN journal
01973851 → ACNP
Volume
19
Issue
7
Year of publication
1999
Pages
642 - 647
Database
ISI
SICI code
0197-3851(199907)19:7<642:PFONS>2.0.ZU;2-Y
Abstract
We report six cases of Noonan syndrome which presented prenatally with sono graphic abnormalities. These included increased nuchal fluid, short femora, pleural effusions, hydrops, cardiac and renal abnormalities. A review of a ll cases of Noonan syndrome seen at two regional genetics centres confirms the association with these sonographic abnormalities. These cases demonstra te the diversity of prenatal presentation of Noonan syndrome and highlight the need to consider this diagnosis, particularly when faced with a fetus w ith a normal karyotype and varying degrees of oedema or hydrops, with a sho rt femur length. Copyright (C) 1999 John Wiley & Sons, Ltd.