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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. We undertook to search for rearrangements in 11p in four patients with BWS and their parents and siblings. By using cloned DNA fragments homologous to four genes located on 11p, namely catalase, parathyroid hormone, insulin-like growth factor II and the proto-oncogene c-Ha-Ras, we subjected DNA from the patients to a restriction fragment length polymorphism (RFLP) analysis after digestion with restriction enzymes. We found no evidence for any large scale deletions or amplifications in this chromosomal region. We therefore conclude that altered gene dosage is not, as has been suggested, a requirement for the development of BWS. This raises the question of whether some other molecular mechanism is responsible for the malformations observed.

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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.

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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. In cases with large omphalocele defects, if primary closure is not possible, an implant is recommended instead of silastic silo, skin flap closure or mercurochrome application. The clinical course in thirty-six patients during the last ten years is reported.

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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. Fourteen were called for a medical examination including x-ray and laboratory test. An increased incidence of intestinal obstruction during the first year of life was found. Seven children reported recurrent abdominal pain, but the x-ray film showed no evidence of intestinal obstruction. Some girls were for cosmetic reasons concerned over the absence of their navel or a disfiguring scar on the abdominal wall. Otherwise the children had developed normally. Length and weight were within normal limits and the children had no serious consequences of their severe congenital malformation.

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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). Seventy-four mothers to children with gastroschisis and omphalocele were randomly selected from a national register and their maternal health service record forms were studied and compared with the forms of 144 matched controls (case control study). None of the analyzed factors was found to be of significant teratogenic importance in the aetiology of abdominal wall defects, nor was it possible to explain the increase in the incidence of gastroschisis taking place during the early 70s.

PIP: This article describes 2 methods used to reveal possible teratogenic factors involved in the etiology of abdominal wall defects. 46 mothers of children with gastroschisis and omphalocele were questioned about heredity, occupation, and use of drugs during early pregnancy (case history study). 74 mothers of children with gastroschisis and omphalocele were randomly selected from a national register and their maternal health service record forms were studied and compared with the forms of 144 matched controls (case control study). None of the analyzed factors was found to be of significant teratogenic importance in the etiology of abdominal wall defects, nor was it possible to explain the increase in the incidence of gastroschisis taking place during the early 1970s. (author's modified)

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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. A computer simulation is made indicating that the actually recorded facts can, at least in part, be explained by the hypothesis.

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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. The incidence of abdominal wall defects in stillborn is twenty times higher than in liveborn children.

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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. The results of rectum-preserving operations were on the whole unsatisfactory. Most of the children made a good adjustment to life with an ileostomy. The high risk of malignancy in patients with an early onset of the disease makes pancoloproctectomy with ileostomy the method of choice even in children.

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

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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. Associated skeletal lesions of the elbow imply a less favourable prognosis.

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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.

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