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Congenital Short-Bowel and Malrotation: Clinical Presentation and Outcome of Six Affected Offspring in Three Related Families
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2001
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Genetic EpidemiologyGastroenterologyGynecologyAffected SiblingsSix Affected OffspringClinical GeneticsFunctional Gastrointestinal DisorderCongenital Short-bowelRelated FamiliesAbnormal DevelopmentDisorders Of Sex DevelopmentChild DevelopmentDevelopmental AnomalyUniformly Bad PrognosisPediatricsPediatric GastroenterologyGastrointestinal PathologyFetal ComplicationMedicineThree Related Families
Newborns with congenital short small bowel associated with malrotation and intestinal dysmotility have a uniformly bad prognosis. However, few long-term survivors have been reported, suggesting that the disorder is not invariably fatal. The majority of cases previously reported were familial. We report on six affected siblings in three related families. The aim of this report is to assess the mode of inheritance, the expression of this disorder, and to point to the correlation between the onset of gastrointestinal symptoms and the outcome.