The Beckwith-Wiedemann Syndrome

Abstract

Seven cases of the Beckwith-Wiedemann syndrome are reported. The features of the syndrome may include macroglossia, omphalocele or umbilical hernia, visceromegaly, postnatal gigantism, microcephaly, nevus flammeus, ear lobe grooves, diaphragmatic eventration, hemihypertrophy, and other abnormalities. The anomalies of the syndrome are facultative and not obligatory. Early diagnosis of this striking syndrome alerts the clinician to the dual threat of possible hypoglycemia and various malignant neoplasms. Although observation of the disorder in sibs suggests autosomal recessive inheritance, several pedigrees intimate that the syndrome is inherited in an autosomal dominant fashion with incomplete penetrance and variable expressivity. For the purposes of genetic counseling, a careful search for minor anomalies of the syndrome should be undertaken in relatives of the proband.