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

Annals of Surgical Treatment and Research
Soo-Hong KimKwi-Won Park

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.

References

Aug 1, 1981·AJR. American Journal of Roentgenology·G CurrarinoT Votteler
Feb 1, 1983·The Journal of Pediatrics·V D YatesJ C Simmons
Jan 18, 2006·Journal of Pediatric Surgery·Celia CrétolleClaire Nihoul-Fékété
Jul 15, 2009·São Paulo Medical Journal = Revista Paulista De Medicina·Sérgio Conti RibeiroEdmund Chada Baracat
Oct 8, 2013·European Journal of Medical Genetics·Elisa MerelloValeria Capra
Oct 8, 2014·Journal of Magnetic Resonance Imaging : JMRI·Jessica B RobbinsElizabeth A Sadowski

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Citations

Sep 5, 2018·Archives of Disease in Childhood. Education and Practice Edition·Peter MallettAndrew Thompson
Jun 8, 2017·AJR. American Journal of Roentgenology·Sarah J MenasheA Luana Stanescu
Apr 11, 2021·Orphanet Journal of Rare Diseases·Gabriel C DworschakMichael Ludwig

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Methods Mentioned

BETA
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