Currarino triad with Müllerian duct anomaly in mother and daughter without MNX1 gene mutation.

Abstract

The Currarino triad is a unique complex of congenital caudal anomalies, including anorectal malformation, sacral bony defect and presacral mass. This triad may be associated with Müllerian duct anomalies, such as duplication of the vagina and uterus. Each of these diseases has a familial tendency and sometimes coexist within families. But, when coexisting in familial cases, nearly all reported cases revealed mutations of the motor neuron and pancreas homeobox 1 (MNX1) gene. Familial cases of Currarino triad combined with Müllerian duct anomaly without MNX1 gene mutation are very rare. Here we report cases of mother and daughter, who had Currarino triad and Müllerian duct anomaly without MNX1 gene mutation, along with a brief literature review.