Version 1
: Received: 13 November 2023 / Approved: 13 November 2023 / Online: 14 November 2023 (09:06:54 CET)
How to cite:
Alharbi, R.; Suchet-Dechaud, A.; Touraine, R.; Harzallah, I.; Ramond, F. Expanding the Clinical Spectrum of Coffin-Siris Syndrome with Anorectal Malformations: Case Report and Review of the Literature. Preprints2023, 2023110855. https://doi.org/10.20944/preprints202311.0855.v1
Alharbi, R.; Suchet-Dechaud, A.; Touraine, R.; Harzallah, I.; Ramond, F. Expanding the Clinical Spectrum of Coffin-Siris Syndrome with Anorectal Malformations: Case Report and Review of the Literature. Preprints 2023, 2023110855. https://doi.org/10.20944/preprints202311.0855.v1
Alharbi, R.; Suchet-Dechaud, A.; Touraine, R.; Harzallah, I.; Ramond, F. Expanding the Clinical Spectrum of Coffin-Siris Syndrome with Anorectal Malformations: Case Report and Review of the Literature. Preprints2023, 2023110855. https://doi.org/10.20944/preprints202311.0855.v1
APA Style
Alharbi, R., Suchet-Dechaud, A., Touraine, R., Harzallah, I., & Ramond, F. (2023). Expanding the Clinical Spectrum of Coffin-Siris Syndrome with Anorectal Malformations: Case Report and Review of the Literature. Preprints. https://doi.org/10.20944/preprints202311.0855.v1
Chicago/Turabian Style
Alharbi, R., Inès Harzallah and Francis Ramond. 2023 "Expanding the Clinical Spectrum of Coffin-Siris Syndrome with Anorectal Malformations: Case Report and Review of the Literature" Preprints. https://doi.org/10.20944/preprints202311.0855.v1
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 diseases are very rare. A review of the literature enabled us to identify 12 individuals with both CSS and ARMs. Among these 12 individuals, 9 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 likely a rare consequence of CSS, especially for ARID1A-related CSS.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
