Anorectal Malformations are Part of the Phenotypic Spectrum of Coffin-Siris Syndrome: Case Report and Review of the Literature
Ralah Alharbi,
Anna Suchet-Dechaud,
Renaud Touraine
et al.
Abstract:Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly heterogeneous and still poorly understood. We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). The co-occurrence of ARMs and CSS in an individual is unexpected since both disease are very rare. A review of the … Show more
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