Trisomy 13: Navigating the Clinical and Genetic Intricacies of Patau Syndrome

• DOI: https://doi.org/10.22533/at.ed.9382427034

• Palavras-chave: Síndrome de Patau, Trissomia 13, Pediatria, Genética, Manejo Multidisciplinar.

• Keywords: Patau Syndrome, Trisomy 13, Pediatrics, Genetics, Multidisciplinary Management.

• Abstract: Patau Syndrome, characterized by trisomy 13, poses a notable challenge in pediatrics and genetics. With an incidence of 1 in 10,000 to 16,000 births, its manifestations include congenital malformations, neurological issues, and cardiac challenges. This review addresses the etiology, phenotype, diagnosis, management, and psychosocial impact of the syndrome. The analysis underscores phenotypic heterogeneity, a guarded prognosis, and the need for a sensitive, multidisciplinary approach. Recent advancements point to a promising future, though therapeutic options remain limited.