[Make your diagnosis: pneumoperitoneum with colonic atresia].
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Two cases of gastroschisis complicated by atresia and ischaemia of the small-bowel wall are presented. Full recovery of the intestine is shown to be feasible. Apparently the atrocious picture presented by the matted intestine upon birth does not reflect the true state of the deeper structures. A plea is made to delay resection and to perform a second look operation at a later stage in an effort to save intestinal length.
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Esophageal atresia with or without tracheoesophageal fistula (EA +/- TEF) usually occurs sporadically either as an isolated malformation or in conjunction with other congenital anomalies. Seventy-six familial cases are recorded in the literature. Two personal cases are additionally reported. An overview of the 33 pedigrees with familial occurrence of EA is presented. All available data of relevance for genetic analysis are compiled in eight tables. Attention is given to possible heterogeneity between sporadic and familial and between isolated and associated EA. Guidelines for genetic counseling are presented. With exception of the cases where EA is part of a chromosomal or of a known monogenic or teratogenic syndrome, the recurrence risks fit into a multifactorial scheme.
Structural anomalies of the gastrointestinal tract and anterior abdominal wall diagnosed in the perinatal period often require prompt surgical intervention. This article highlights the pathophysiology, evaluation, and management of the more common lesions encountered in the neonate.
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Malformations of the intestinal tube were studied in 220 infants and in 15 human embryos. Comparison with data in the literature allowed that atresias, stenoses and duplications of the gastrointestinal tract result from some primary morphogenetic disturbance in early gestation more often than from a failure of recanalization, interference with blood supply in fetal life, or from enteritis or peritonitis. This is based on the association of these defects with chromosomal abnormalities (trisomies, partial monosomies, etc); association with malformations which cannot be explained by secondary lesions; the finding of oesophageal stenosis in 6 week-old embryo prior to the stage of epithelial proliferation; the lack of vascular disturbance in cases of the "apple-peel" syndrome and persistence of intramural ganglia in affected segments of bowel.
We describe monozygotic twins with colonic atresia and discuss genetic causes of colonic atresia.