Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.
Eur J Med Genet
; 69: 104948, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38735569
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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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
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Anormalidades Múltiplas
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Deformidades Congênitas da Mão
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Proteínas de Ligação a DNA
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Face
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Malformações Anorretais
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Deficiência Intelectual
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Micrognatismo
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Pescoço
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article