Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature

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). A co -occurrence of ARMs and CSS in an individual by chance is unexpected since both diseases are very rare. A review of the literature enabled us to identify 10 other individuals with both CSS and ARMs. Among the ten individuals reported in this study, 8 had a variant in ARID1A , 2 in ARID1B , and 1 in SMARCA4 . This more frequent than expected association between CSS and ARM indicates that some ARMs are most likely part of the CSS spectrum, especially for ARID1A -related CSS.