Resumo

AROCENA, Elsa; MACHADO, Karina; PIREZ, María Catalina  e  MONTANO, Alicia. Síndrome de Alagille: A propósito de un caso. Arch. Pediatr. Urug. [online]. 2010, vol.81, n.3, pp.158-162. ISSN 1688-1249.

Alagille Syndrome is an autosomal dominant disorder of variable expression, whose prevalence is 1 in 100 000 births, characterized by cholestasis, vertebral and eye abnormalities, congenital heart disease and characteristic facies. It is caused by mutations in the Jagged 1 gene. Several mutations have been described in this gene, located in chromosome 20. The prognosis of this syndrome is variable and depends on the severity of hepatic or cardiac involvement. We present a 10 year old patient in which Alagille syndrome is diagnosed during a hospital stay for an infectious pathology. This patient has 4 of the 5 major features: characteristic facies, posterior embriotoxon, vertebral defects, congenital heart disease. Presents family history of congenital heart disease and facial dysmorphias with a genealogy that resembles an autosomal dominant disorder

Palavras-chave : ALAGILLE SYNDROME; ABNORMALITIES, MULTIPLE; HEART DEFECTS, CONGENITAL; EYE DISEASES; FACIES; LIVER DISEASES.

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