Wiedemann-beckwith syndrome

Abstract

The Wiedemann-Beckwith syndrome (WBS) comprises an accumulation of multiple congenital anomalies. Exomphalos, macroglossia and gigantism are considered the most common manifestations, hence the alternative designation EMG-syndrome. The syndrome carries with it an increased risk of developing specific tumours. One of the more frequent metabolic changes is transient neonatal hypoglycaemia, the result of increased insulin secretion. Inheritance of the syndrome remains uncertain. Most cases are sporadic, but a number of familial cases have been reported. Present evidence suggests that WBS is an autosomal dominant trait with variable expressivity. This review summarizes the abundant literature on the subject and discusses recent molecular genetic developments that may explain the interrelationship between the clinical abnormalities, metabolic disturbances and development of tumours.

Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality.

“…Therefore, circulating levels of IGF2 and the IGFBPs are increased in mice lacking a functional IGF2R. derived tumors and often in infants that have BeckwithWiedemann syndrome, clinically significant hypoglycemia is associated with excessive production and elevated serum levels of IGF2 (Engstrom et al 1988;Daughaday 1990). Serum glucose levels were measured in 12 wildtype and 5 m -/ p + heterozygous embryos to determine whether glucose homeostasis was altered in mice lacking a functional Igf2r.…”

Beckwith–Wiedemann syndrome

“…Development is usually normal unless there is chromosome 11p15.5 duplication or serious perinatal complications, including prematurity or uncontrolled hypoglycemia. Hypoglycemia is reported in 30-50% of babies with BWS, 3,5 likely caused by islet cell hyperplasia and hyperinsulinemia.…”

Three-dimensional ultrasound of massive macroglossia in a fetus with Beckwith-Wiedemann syndrome

“…Macroglossia, defined as a resting tongue that extends beyond the alveolar ridge or teeth [22], is the most common finding in children with BWS [4,16]. Surgery for macroglossia is often considered but should not be performed before 6 months of age [11].…”