J Med Case Rep 2016 Dec 21;10(1):374. Epub 2016 Dec 21.
Department of Clinical Genetics, Aalborg University Hospital, Ladegårdsgade 5, Aalborg, 9000, Denmark.
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J Pediatr Surg 2015 Aug 10;50(8):1245-50. Epub 2015 Mar 10.
University of Illinois College of Medicine, Chicago, IL USA.
Purpose: The aim of this study was to compare the frequency and nature of VACTERL associations between children who underwent surgery for esophageal atresia/tracheoesophageal fistula (EA/TEF) and anorectal malformation (ARM).
Methods: We identified all children who underwent surgery for EA/TEF and/or ARM at hospitals participating in the Pediatric Health Information System (PHIS) database between 2004 and 2012. PHIS is an administrative database of free-standing children's hospitals managed by the Child Health Corporation of America (Overland Park, KS) that contains patient-level care data from 43 hospitals. Read More
J Pediatr Surg 2010 Dec;45(12):e29-31
Department of Pediatric Surgery, Sri Aurobindo Institute of Medical Sciences, Indore (MP), Mumbai-400063 India.
Mayer-Rokitansky-Kuster-Hauser (MRKH) is a characteristic syndrome in which the mullerian structures are absent or rudimentary. It is also associated with anomalies of the genitourinary and skeletal systems. There are very few cases reported regarding its association with anorectal malformations, particularly perineal fistulas. Read More
Pediatr Surg Int 2005 Apr 9;21(4):285-8. Epub 2004 Dec 9.
Department of Pediatric Surgery, Johannes Gutenberg University, Langenbeckstrasse 1, 55131 Mainz, Germany.
We report on a preterm girl (birth weight 1,200 g) with a right esophageal lung in esophageal atresia type VIag (according to the extended classification of Kluth). Additionally, the child suffered from an atrioseptal defect, a dextrocardia with a left descending aorta, a duodenal atresia, a high type of anal atresia (VACTERL association), agenesis of the left kidney, and agenesis of the vagina, uterus, and ovarian tubes (Mayer-Rokitansky-Kuster-Hauser syndrome or incomplete MURCS association). The child was treated with an emergency gastrostomy because of increasing abdominal dilatation. Read More
Genet Med 2010 Oct;12(10):634-40
Medical Genetics, Department of Medicine, Surgery and Dentistry, Università degli Studi di Milano, Italy.
Purpose: The Mayer-Rokitansky-Küster-Hauser syndrome is defined as congenital aplasia of müllerian ducts derived structures in females with a normal female chromosomal and gonadal sex. Most cases with Mayer-Rokitansky-Küster-Hauser syndrome are sporadic, although familial cases have been reported. The genetic basis of Mayer-Rokitansky-Küster-Hauser syndrome is largely unknown and seems heterogeneous, and a small number of cases were found to have mutations in the WNT4 gene. Read More