AI Article Synopsis
- Anorectal malformations (ARMs) are congenital conditions affecting the anus and rectum, often associated with syndromic diseases, meaning they occur alongside other medical issues.
- A case study discusses a 4-year-old girl with an isolated ARM who later was diagnosed with Coffin-Siris syndrome (CSS) linked to an ARID1B gene mutation, highlighting the rarity of this dual diagnosis.
- Literature review revealed 10 other cases with both CSS and ARMs, suggesting a significant association between the two, particularly with ARID1A-related forms of CSS.
Article 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). 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.
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| http://dx.doi.org/10.1016/j.ejmg.2024.104948 | DOI Listing |
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