Resumo

SABELLA-JIMENEZ, VANESSA et al. Townes-Brocks Syndrome in Barranquilla, Colombia: Case report and state of the art. Salud, Barranquilla [online]. 2019, vol.35, n.3, pp.422-439. ISSN 0120-5552.

Townes-Brocks syndrome, described in 1972, is characterized by three major congenital anomalies: anorectal malformation, dysplastic ears and thumb anomalies. It is a rare genetic disorder with autosomal dominant inheritance and an estimated prevalence of 1/250.0000. Approximately 164 cases have been reported in the literature. In Colombia, only one case was previously reported in a scientific event. Our case report is the first published in an indexed journal. Our article aims to report the patient's phenotype and the state of art of Townes-Brocks syndrome.

Palavras-chave : townes-brocks syndrome; anus; imperforate; radius; agenesis; thumb; abnormalities; ear auricle.

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