Analysis of gene dosage on chromosome 11 in children suffering from Beckwith-Wiedemann syndrome.

The Beckwith-Wiedemann syndrome (BWS) is composed of multiple congenital malformations coupled with a high concurrent risk for the development of specific rare childhood tumours. The syndrome is characterised by a complex mode of inheritance, but recent evidence indicates that it is an autosomal dominant trait with variable penetrance. It has been previously suggested that major rearrangements of the short arm of chromosome 11 are involved in the aetiology of the disease.

Wiedemann-Beckwith syndrome.

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.

A retrospective study of 91 cases with gastroschisis or omphalocele 1956-1985.

The experiences of treatment of 91 infants with abdominal wall defects during thirty years are presented. The occurrence of gastroschisis increased during the last ten years. The results of treatment have improved markedly during the period of study but there is still a high mortality rate in children with omphalocele and multiple concomitant malformations and in children with gastroschisis and coexisting intestinal atresia.