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Familial intestinal polyatresia syndrome
N Güngör1, S Balci, F C Tanyel
1Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Clinical Genetics
|May 1, 1995
Summary
Familial multiple-level intestinal atresia is a rare, fatal genetic disorder. This report details two new cases, aiding genetic counseling and prenatal diagnosis for affected families.
Area of Science:
- Genetics
- Pediatric Surgery
- Medical Genetics
Background:
- Familial multiple-level intestinal atresia is a rare autosomal recessive condition.
- Limited documented cases exist globally.
- This syndrome presents a significant challenge in diagnosis and management.
Observation:
- Two new cases of familial multiple-level intestinal atresia from a consanguineous couple in Turkey are presented.
- These represent the first reported cases of Familial Intestinal Polyatresia Syndrome in Turkey.
- The patients presented with multiple intestinal atresias.
Findings:
- Familial multiple-level intestinal atresia is consistently fatal.
- Autosomal recessive inheritance pattern confirmed.
- Consanguinity increases the risk of rare genetic disorders.
Implications:
- Early recognition of this invariably fatal syndrome is crucial.
- This report aids in genetic counseling for affected families.
- Facilitates attempts at early prenatal diagnosis in subsequent pregnancies.