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.

Long-term results in children with omphalocele and gastroschisis--a follow-up study.

Forty-six children operated on for omphalocele or gastroschisis were followed up at an average age of 8.8 years. A questionnaire form was sent to all patients.

Teratogenic aspects of abdominal wall defects.

The article describes two methods used to reveal possible teratogenic factors involved in the aetiology of abdominal wall defects. Forty-six mothers to children with gastroschisis and omphalocele were questioned about heredity, occupation, use of drugs etc. during early pregnancy (case history study).

A women's birth cohort effect on malformation rates.

A relatively sudden increase in prevalence at birth of gastroschisis was seen in Sweden at the beginning of the 1970s. Case-control studies, looking for a teratogenic factor, have proved negative. This paper presents a hypothesis suggesting that the women's birth cohort has an effect: women born in 1953-5 have an increased probability of having this type of malformed infants.

Omphalocele and gastroschisis in Sweden 1965--1976.

The present investigation supports the view that omphalocele and gastroschisis are two different congenital malformations. They differ not only anatomically but also regarding the incidence of concomitant malformations, sex ratio and maternal age. There has been a significant increase in the incidence of gastroschisis in Sweden during the period 1965--1976 but no corresponding increase in the incidence of omphalocele.

Ulcerative colitis in childhood: should the rectum be preserved at surgery? Long-term results in 50 patients.

Fifty children subjected to surgery for ulcerative colitis were followed up for 9-23 (mean, 14) years. Of these, 22 had a colectomy and an ileorectal anastomosis, and 9 had a colectomy and an ileostomy with the rectum left in situ. Nineteen children with inflammatory changes in the rectum had a pancoloproctectomy and an ileostomy.

Haemorrhagic right upper lobe infarction as a complication in primary end-to-end anastomosis of oesophageal atresia.

The clinical and radiological features of right upper lobe haemorrhagic infarction as a complication to end-to-end anastomosis in oesophageal atresia are presented.

The significance of associated lesions including dislocation in fractures of the neck of the radius in children.

A series consisting of 29 children with markedly dislocated fractures of the neck of the radius has been analysed. The method of measuring the angular dislocation is discussed. A true dislocation not exceeding 30 degrees may be left unreduced.

Four cases of omphalocele in two generations of the same family.

A family in which four cases of omphalocele were found within two generations is presented. One of the patients also had Down's syndrome. To our knowledge, this is the first report of such an occurrence in one family.