Anorectal Malformations in Male Monozygotic Twins and Review of Literature

J Indian Assoc Pediatr Surg. 2022 Mar-Apr;27(2):136-139. doi: 10.4103/jiaps.JIAPS_344_20. Epub 2022 Mar 1.

Abstract

Anorectal malformations (ARMs) are one of the common congenital gastrointestinal malformations with a prevalence of 0.2-0.6/1000 live births. There are only a few reported cases of familial ARMs in literature suggesting different patterns of inheritance. Among them, isolated ARMs in monozygotic twins are quite rare with significant male preponderance. Most of these ARMs are either of intermediate or low anomaly type. We reported two pairs of male monozygotic isolated ARMs from a tertiary care hospital in India and reviewed the literature in details adding to the total of nine pairs of twins till date.

Keywords: Anorectal malformations; birth defects; monozygotic twins.