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Prenatal features of Noonan syndrome
Author(s) -
Nisbet Debbie L.,
Griffin David R.,
Chitty Lyn S.
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199907)19:7<642::aid-pd610>3.0.co;2-1
Subject(s) - noonan syndrome , medicine , prenatal diagnosis , osteochondrodysplasia , hypertelorism , down syndrome , pediatrics , presentation (obstetrics) , hydrops fetalis , fetus , pathology , pregnancy , obstetrics , anatomy , genetics , biology , psychiatry
Abstract We report six cases of Noonan syndrome which presented prenatally with sonographic abnormalities. These included increased nuchal fluid, short femora, pleural effusions, hydrops, cardiac and renal abnormalities. A review of all cases of Noonan syndrome seen at two regional genetics centres confirms the association with these sonographic abnormalities. These cases demonstrate the diversity of prenatal presentation of Noonan syndrome and highlight the need to consider this diagnosis, particularly when faced with a fetus with a normal karyotype and varying degrees of oedema or hydrops, with a short femur length. Copyright © 1999 John Wiley & Sons, Ltd.