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[Familial occurence of congenital short bowel (author's transl)]
Monatsschrift Fur Kinderheilkunde
|July 1, 1978
Insights
Familial short bowel disease, a rare congenital malformation, presents in infants and may be inherited. This suggests a potential recessive autosomal genetic disorder in affected families.
Area of Science:
- Genetics
- Pediatric Surgery
- Gastroenterology
Background:
- Short bowel is a rare congenital malformation.
- Familial occurrence suggests a genetic component.
Observation:
- A sibling died from the same malformation.
- The infant presented with inborn short bowel, malrotation, and pylorus stenosis.
- Parents were cousins, indicating consanguinity.
Findings:
- The condition can lead to intestinal obstruction syndrome.
- Review of literature reveals limited cases, highlighting rarity.
- Familial aggregation points towards a recessive autosomal inheritance pattern.
Implications:
- Early diagnosis and genetic counseling are crucial for affected families.
- Further research into the genetic basis of short bowel malformation is warranted.
- Understanding inheritance patterns can guide clinical management and family planning.
Abstract:
We report the clinical and post-mortem findings of an infant with inborn short bowel. One sibling died because of the same malformation. The parents are cousins. This malformation is combined with malrotation, often with pylorus-stenosis too, and can cause an intestinal obstruction syndrome. All presently known cases in the pertinent literature are summarized. The occurence of familial cases suggest a rezessive autosomal disease.