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 Mullerian 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 Mullerian duct anomaly without MNX1 gene mutation are very rare. Here we report cases of mother and daughter, who had Currarino triad and Mullerian duct anomaly without MNX1 gene mutation, along with a brief literature review.
Subject(s)
Humans , Genes, Homeobox , Mothers , Motor Neurons , Mullerian Ducts , Nuclear Family , Pancreas , Uterus , VaginaABSTRACT
Dermoid cyst is rare developmental anomaly with sequestration of embryonic closure line, but there is no suggestian that such an anomaly is inherited. The patients were 41 year old mother and 10 year old daugliter whose skin lesions have been noticed since puberta.lstae in the mother and since birth in the daugther It was interesting for those lesions to be appeared typically on the superior orbital area.