Beckwith-Wiedemann Syndrome

1 per 13,700 individuals.

No gender predilection, although with monozygotic twins it is seen more in females than males.

Conceptions from IVF have a 3–5 times increased risk of BWS.

Acute airway obstruction; difficult mask ventilation and intubation secondary to macroglossia

Hypoglycemia due to islet cell hyperplasia and hyperinsulinemia

Cardiac malformations

Persistent hypoglycemia, which may cause CNS damage; therefore intraop infusion of a glucose-containing solution and frequent glucose checks are required.

Difficult airway management.

Commonly known for the triad of EMG.

Other clinical features include anterior earlobe creases, posterior helical pits, facial nevus flammeus, hemihyperplasia, renal anomalies, embryonal tumors, cardiac malformations, and hypoglycemia.

7.5% estimated risk for embryonal tumor development, which occurs in the first 10 y of life. Most common tumors are Wilms tumor and hepatoblastoma but may also include rhabdomyosarcoma, adrenocortical carcinoma, and neuroblastoma.

Cardiac involvement often limited to mild cardiomegaly, although other cardiac defects have been reported (atrial and ventricular septal defects, tetralogy of Fallot, hypoplastic left ventricle, cardiomyopathy, cardiac tumors, and valvular disease).

Hypoglycemia due to islet cell hyperplasia and hyperinsulinemia occurs in 50% of BWS pts, is often responsive to medical therapy, and usually regresses during the first 4 mo of life. Persistent hypoglycemia refractory to medical management may require pancreatectomy.