BECKWITH-WIEDERMANN SYNDROME

Beckwith-Wiedermann syndrome (BWS) is an inherited disorder involving numerous organ systems. It is also known as the EMG syndrome:

Exomphalos = omphalocele.
Macroglossia.
Gigantism.

• Inheritance
• Autosomal dominant with incomplete penetrance (1,2).
• Positive family history in 10-40% of cases.
• Incidence
• 1:13,700 live births.
• Karyotype
• Usually Normal (may be subtle abnormalities of chromosome 11).
• Sonographic and clinical features (1-7).

Sonographic / Clinical / Biochemical Findings	Incidence
Polyhydramnios Macroglossia. Abdominal visceromegaly (nephromegaly, hepatomegaly) Natal / postnatal gigantism. Omphalocele. Umbilical hernia. Diastasis recti. Hypoglycemia. Facial flame nevus. Mid-face hypoplasia. Prominent occiput. Ear lobe abnormalities. Hemihypertrophy. Cardiac defects Kidneys (bilateral cystic or enlarged and echogenic) Placentomegaly	29% 100% 81% 100% 36% 50% 18% 50% 68% 88% 47% 75% 22% 37%

Macroglossia and Polyhydramnios

Neonatal mortality ±21% and is mainly due to congestive cardiac failure or the severe malformations associated with the syndrome.
Beyond the neonatal period the outlook is favorable.
Long term complications include:

• Adrenal cortical carcinoma.
• Nephroblastoma.
• Sequelae of unrecognized neonatal hypoglycemia. Hypoglycemia in the neonatal period requires early detection and treatment to prevent long term intellectual complications.

REFERENCES

1. Pattenati MJ, Haines JL, Higgins RR et.al. Wiedermann-Beckwith syndrome: Presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 1986;74:143-154.
2. Buyse ML (ed). Reference Birth Defects Encyclopedia. Blackwell Scientific Publications, Cambridge, USA 1990:218-219.
3. Koontz WL, Shaw LA, Lavery JP. Antenatal sonographic appearance of Beckwith-Wiedermann syndrome. J Clin Ultrasound 1986;14:57-59.
4. Lodeiro JG, Byers JW, Chuipek S et.al. Prenatal diagnosis and perinatal management of the Beckwith-Wiedermann syndrome. A case and review. Am J Perinatol 1989;6:446-449.
5. Viljoen DL, Jaquire Z, Woods DL. Prenatal diagnosis in autosomal dominant Beckwith-Wiedermann syndrome. Prenat Diagn 1991;11:167-175.
6. Wieacker P, Wilhelm C, Greiner P et.al. Prenatal diagnosis of Wiedermann-Beckwith syndrome. J Perinat Med 1989;17:351-355.
7. Whisson CC, Whyte A, Ziesing P. Beckwith-Wiedermann syndrome: Antenatal diagnosis. Australasian Rad 1994;38:130-131.
8. Chitty LS, Griffin DR, Johnson P et.al. The differential diagnosis of enlarged echogenic kidneys with normal or increased liquor volume: report of five cases and review of the literature. Ultrasound Obstet Gynecol 1991; :115-121.