Síndrome de Coffin-Siris y Paladar Hendido: Reporte de un caso
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https://revistas.ustabuca.edu.co/index.php/USTASALUD_ODONTOLOGIA/article/view/3045
10.15332/us.v23i1.3045
10.15332/us.v23i1.3045
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Universidad Santo Tomás Seccional Bucaramanga
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El síndrome de Coffin-Siris (CSS) es de herencia autosómica dominante y la mayoría de los casos reportados son de novo. En la literatura global existen reportados menos de 300 casos, dado la escasez en el número de casos su prevalencia e incidencia exactas son desconocidas. Sus manifestaciones clínicas se caracterizan por la triada de discapacidad intelectual, rasgos faciales toscos e hipoplasia del quinto dedo. En este estudio describiremos el abordaje diagnóstico de un caso pediátrico de síndrome de Coffin-Siris con variante probablemente patogénica en el gen SMARCA4 con manifestaciones clásicas de esta patología y otras no tan frecuentes como el paladar hendido.
Coffin-Siris syndrome (CSS) is autosomal dominant and most reported cases are de novo. In the global literature, there are less than 300 cases reported, given the scarcity in the number of cases, their exact prevalence and incidence are unknown. Its clinical manifestations are characterized by the triad of intellectual disability, coarse facial features, and hypoplasia of the fifth finger. In this study we will describe the diagnostic approach of a pediatric case of Coffin-Siris syndrome with a probably pathogenic variant in the SMARCA4 gene with classic manifestations of this pathology and others not as frequent as cleft palate.
Coffin-Siris syndrome (CSS) is autosomal dominant and most reported cases are de novo. In the global literature, there are less than 300 cases reported, given the scarcity in the number of cases, their exact prevalence and incidence are unknown. Its clinical manifestations are characterized by the triad of intellectual disability, coarse facial features, and hypoplasia of the fifth finger. In this study we will describe the diagnostic approach of a pediatric case of Coffin-Siris syndrome with a probably pathogenic variant in the SMARCA4 gene with classic manifestations of this pathology and others not as frequent as cleft palate.
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Coffin-Siris syndrome, cleft palate, Child Development Deviations, gene proteins, seizure, Síndrome de Coffin-Siris, paladar hendido, Trastornos de Retraso en el Desarrollo, proteínas de gen, convulsión
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