Distal foregut atresias in consecutive siblings and twins in the same family

Area of Science:

• Gastroenterology and Genetics
• Developmental Biology
• Pediatric Surgery

Background:

• Distal foregut atresias, such as gastric antrum atresias (AA) and duodenal atresias (DA), are congenital anomalies.
• These lesions, including diaphragms, webs, and membranes, are increasingly recognized due to heightened clinical awareness.
• Foregut atresias have a known genetic association and can occur sporadically or with severe malformations.

Observation:

• This report details an exceptionally rare instance of foregut atresias affecting four siblings across two consecutive births.
• The cases include two affected siblings and a pair of monozygous twins, highlighting an unusual familial aggregation.
• The affected individuals presented with atresias of the gastric antrum and supra-ampullary duodenum.

Findings:

• The occurrence in four siblings strongly supports a genetic etiology and suggests a specific mode of transmission, even without consanguinity.
• The findings indicate a close etiological relationship between antral atresia and supra-ampullary duodenal atresia.
• Discordant expression in monozygous twins may point to a pleiotropic effect of a single genetic factor.

Implications:

• This familial cluster provides significant evidence for the genetic basis of foregut atresias.
• Understanding the genetic factors and transmission patterns can aid in genetic counseling and risk assessment for affected families.
• Further research into the pathogenesis may reveal shared pathways for these related gastrointestinal anomalies.