Background:

MURCS refers to the preferential association of müllerian duct and kidney aplasia and cervicothoracic vertebrae anomalies. Of unknown etiology, it is usually sporadic.

Objectives:

To describe newborn female case of MURCS with additional anomalies and to discuss possible pathogenetic mechanisms and etiology.

Discussion:

The spectrum of MURCS is unknown. Vertebral, urogenital and anal defects can be explained by abnormal interactions between the embryonic precursors that show a close spatial relationship during early development: paraxial (spine), intermediate (ureters, kidney), and lateral mesoderm (coelomic epithelium: adrenal glands, ovaries, uterus; uro-rectal septum: anus). We emphasize the importance of interdisciplinary care, including a clinical geneticist in the care of patients with these characteristics.