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Revista chilena de obstetricia y ginecología
versión On-line ISSN 0717-7526
Resumen
SALDARRIAGA, Wilmar; CRUZ PEREA, Manuel Enrique y RAMIREZ-CHEYNE, Julián. Asociación MURCS: reporte de caso. Rev. chil. obstet. ginecol. [online]. 2015, vol.80, n.4, pp.331-336. ISSN 0717-7526. http://dx.doi.org/10.4067/S0717-75262015000400008.
The MURCS association (Mullerian aplasia, renal aplasia, Cervicothoracic Somite dysplasia) (OMIM%601076) refers to a set of congenital abnormalities, without being due to chance, they appear concomitantly in a person. It is characterized by Müllerian aplasia, renal aplasia and cervicothoracic dysplasia caused by alterations in the corresponding somites. We describe a case report of a 9-year-old female, who is diagnosed with MURCS association, to present uterine agenesis, hypoplasia and unilateral renal ectopia and deformity of the 5th cervical vertebra. We emphasize the importance of interdisciplinary care, including a clinical geneticist in the care of patients with these characteristics.
Palabras clave : MURCS association; Müllerian aplasia; congenital abnormalities; disorders of sex development.