Currarino triad with Mullerian duct anomaly in mother and daughter without MNX1 gene mutation.
10.4174/astr.2016.90.1.49
- Author:
Soo Hong KIM
1
;
Se Hyun PAEK
;
Hyun Young KIM
;
Sung Eun JUNG
;
Kwi Won PARK
Author Information
1. Department of Pediatric Surgery, Pusan National University Yangsan Hospital, Yangsan, Korea.
- Publication Type:Case Report
- Keywords:
Currarino triad;
Mullerian ducts;
Familial case;
MNX1 gene
- MeSH:
Genes, Homeobox;
Humans;
Mothers*;
Motor Neurons;
Mullerian Ducts;
Nuclear Family*;
Pancreas;
Uterus;
Vagina
- From:Annals of Surgical Treatment and Research
2016;90(1):49-52
- CountryRepublic of Korea
- Language:English
-
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.
