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Double bubble, double trouble.

H Okti Poki¹, A J A Holland, J Pitkin

¹Douglas Cohen Department of Paediatric Surgery, The Children's Hospital at Westmead, The University of Sydney, Westmead, NSW 2145, Australia.

Pediatric Surgery International

|May 25, 2005

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Duodenal atresia (DA), a congenital anomaly, is rare in families. This report details two siblings with DA, suggesting genetic and environmental factors may contribute to its development.

Area of Science:

Pediatric Surgery
Medical Genetics
Neonatal Medicine

Background:

Duodenal atresia (DA) is a congenital gastrointestinal obstruction, often diagnosed antenatally via ultrasound's "double-bubble" sign.
While frequently associated with chromosomal abnormalities like trisomy 21 or other congenital defects, familial DA is exceptionally rare.

Observation:

This report presents two siblings diagnosed with duodenal atresia from nonconsanguineous parents.
One sibling also had an annular pancreas and gestational diabetes, indicating complex comorbidities.

Findings:

The occurrence of DA in siblings, particularly without consanguinity, highlights a potential familial predisposition.
The co-occurrence with annular pancreas and gestational diabetes in one case suggests multifactorial etiology.

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Implications:

These cases underscore the importance of considering genetic counseling for families with DA.
Further research into the genetic and environmental factors influencing DA etiology is warranted.
Early diagnosis and management are crucial for improving outcomes in infants with duodenal atresia.