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- Title
Síndrome de Townes-Brocks en Barranquilla, Colombia: Reporte de caso y estado del arte.
- Authors
SABELLA-JIMÉNEZ, VANESSA; OTERO-HERRERA, CARLOS; TOVAR BERARDINELLI, RAFAEL; ROLÓN MARTÍNEZ, GLORIA; SILVERA-REDONDO, CARLOS; GARAVITO-GALOFRE, PILAR
- Abstract
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.
- Subjects
COLOMBIA; TECHNICAL reports; CONGENITAL disorders; HUMAN abnormalities; THUMB; PERIODICAL publishing
- Publication
Salud Uninorte, 2019, Vol 35, Issue 3, p422
- ISSN
0120-5552
- Publication type
Article