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A child with oligo-syndactyly and 'apple peel' bowel atresia
1Department of Clinical Genetics, St James' Hospital, Leeds, West Yorkshire, UK.
Clinical Dysmorphology
|January 1, 1995
Insights
This case study describes a rare instance of apple peel jejunal atresia, a congenital condition, in an infant with associated limb abnormalities. The study reviews existing literature to explore potential causes of this complex condition.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Developmental Biology
Background:
- Apple peel jejunal atresia is a rare congenital anomaly characterized by a unique pattern of intestinal atresia.
- Associated limb abnormalities can occur, suggesting a potential syndromic or developmental etiology.
Observation:
- A neonate presented with clinical and radiological features consistent with apple peel jejunal atresia.
- The infant also exhibited distinct limb malformations, prompting further investigation.
Findings:
- The case highlights the coexistence of apple peel jejunal atresia and limb abnormalities in a single patient.
- A review of current literature on apple peel atresia and its potential underlying causes is presented.
Implications:
- This case contributes to the understanding of the spectrum and potential etiologies of apple peel jejunal atresia.
- Further research into the genetic and developmental pathways may elucidate the link between intestinal atresia and limb defects.
Abstract:
A baby with 'apple peel' jejunal atresia and limb abnormalities is described. The literature on 'apple peel' atresia is reviewed and the possible aetiology is discussed.