Atypical signs of Beckwith-Wiedemann syndrome

Fabrice Cuillier, MD*, G. Arrazola, MD**; L. Vinatier, MD*; J.L. Alessandri, MD***

Article Published: Aug 7, 2011

* Department of Gynecology, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
** Department of Gynecoly, Hopital , Dieppe, France.
*** Department of Neonatology, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

Case report

A 31-year-old woman (G2P1) was referred to our antenatal unit at 33 weeks of pregnancy due to an omphalocele and intrauterine growth restriction (IUGR) of her fetus. Her family history was not contributive.

Her previous scan at 12 weeks was normal (nuchal translucency 0.7 mm; CRL 53 mm) and so was her biochemical triple tests.

At 24 weeks, a fetal omphalocele (15 mm in diameter) and IUGR were discovered during ultrasonographic examination. Left renal cyst of 10 mm was also noted. Amniocentesis revealed normal karyotype (46, XY).

Our ultrasonographic examination was performed at 33 weeks and found following abnormalities: