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[Laparoschisis: a familial form]

P Ravasse¹, A Kabesh, P Mitrofanoff

¹Service de chirurgie pédiatrique, CHU Côte de Nacre, Caen.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie

|November 1, 1994

Summary

Gastroschisis, a rare congenital defect, occurred in two male first cousins. This is the first reported familial occurrence in cousins, suggesting a potential genetic link in gastroschisis.

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Area of Science:

Pediatric Surgery
Medical Genetics
Congenital Anomalies

Background:

Gastroschisis is a rare congenital anomaly where abdominal organs develop outside the body.
Familial occurrences of gastroschisis are exceptionally rare, with most documented cases in siblings.
Understanding the etiology of gastroschisis is crucial for genetic counseling and risk assessment.

Observation:

Two male infants, born 15 years apart, were diagnosed with gastroschisis.
The mothers of both affected infants were sisters, indicating a familial link through first cousins.
The first infant underwent surgical repair but succumbed to septicemia; the second infant had a successful surgical repair.

Findings:

This case report details the first documented instance of gastroschisis occurring in first-degree cousins.
The familial recurrence in this case suggests a potential genetic predisposition or shared environmental factors.
The contrasting outcomes highlight the variability in disease severity and response to treatment.

Implications:

This finding expands the understanding of familial gastroschisis beyond sibling recurrence.
Further research into the genetic and environmental factors contributing to gastroschisis is warranted.
These insights can inform genetic counseling for families with a history of gastroschisis.

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