2008-06-01-10 Beckwith – Wiedemann Syndrome © Cuillier www.thefetus.net/
Beckwith – Wiedemann Syndrome
Fabrice Cuillier, MD*; Touré Y., MD**; Alessandri J.L., MD***.
* Department of Gynecology, Félix Guyon"Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
** Department of Gynecology, GHSR, 97400 Saint-Pierre, Ile de la Réunion, France;
*** Department of Neonatology, Félix Guyon"Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
A 24-year-old woman (G1P0) was referred to our antenatal unit at 28 weeks for a second opinion ultrasound. Her family history of congenital diseases was negative and she didn’t take any chemotherapy.
Her sonography at 14 weeks revealed an omphalocele. At 17 weeks an amniocentesis was done and normal karyotype was found (46XX). At 22 weeks fetal macrosomia was observed.
Our ultrasound at 28 weeks found the macrosomia (abdominal circumference above 95th percentile), polyhydramnios, omphalocele, nephromegaly, hepatomegaly and macroglossia. The findings were consistent with an overgrowth syndrome and the Beckwith-Wiedemann was suspected. The parents opted for the termination of the pregnancy.
Images 1, 2: The image 1 shows transverse scan of the fetal head with macrocephaly. The image 2 shows transverse scan of the fetal abdomen at the level of the umbilical insertion with the omphalocele.
Images 3, 4: The images show fetal nephromegaly.
Images 5, 6: Images show 3D representation of the fetal ears. An ear lobe groove was suspected.
Video 1: The video shows fetal macroglossia.