Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]
Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower ...
Campbell, Desmond D. +11 more
core +1 more source
Bowel management program in patients with anorectal malformations
Objective: To establish an effective and practical bowel management protocol to achieve social continence in children operated for anorectal malformations.
Batool Fatima +5 more
doaj +1 more source
Types and Levels of Colostomy in Children with Anorectal Malformation
Objective: Divided colostomy for anorectal management is often recommended due to reports of higher complications associated with loop colostomy. This study was conducted to compare outcomes and complications in colostomies in children with anorectal ...
Ravit Ruangtrakool +1 more
doaj
Gastrointestinal malformations in Gorgan, North of Iran: Epidemiology and associated malformations
The aim of this prospective study was to evaluate the prevalence and pattern of gastrointestinal malformations (GIM) among Iranian newborns in Gorgan, North of Iran. From 1998 through 2003, 37,951 live births in Dezyani hospital in Gorgan, North of Iran,
Golalipour, M.J. +3 more
core +1 more source
“Prevalencia de malformaciones congénitas gastrointestinales en el Hospital Materno Perinatal Mónica Pretelini Sáenz durante el periodo de 2010 a 2015” [PDF]
I. RESUMEN INTRODUCCIÓN: Las malformaciones congénitas suelen ser causadas por alteraciones en el desarrollo morfológico, estructural, funcional o molecular del embrión, generando repercusiones tanto estéticas como funcionales con alteraciones ...
GONZÁLEZ OCAMPO, NURI +2 more
core
Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report [PDF]
Townes‑Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end‑stage renal failure (ESRF) early
Bian, F +6 more
core +1 more source
Development of the human bladder and ureterovesical junction. [PDF]
The urinary bladder collects urine from the kidneys and stores it until the appropriate moment for voiding. The trigone and ureterovesical junctions are key to bladder function, by allowing one-way passage of urine into the bladder without obstruction ...
Baskin, Laurence +6 more
core +1 more source
Primary presacral neuroendocrine tumor associated with imperforate anus [PDF]
Background Presacral masses are unusual growths that have a limited differential diagnosis, typically not including neuroendocrine tumors (NETs). Classically, NETs are well-differentiated gastroenteropancreatic tumors of probable benign behavior.
Tad Kim +3 more
core +2 more sources
Pediatric Anesthesia, Volume 36, Issue 3, Page 326-328, March 2026.
Bronwyn Faith Krause +2 more
wiley +1 more source
PURPOSE: To evaluate an experimental model for anorectal anomalies and their principal associated malformations induced by ethylene thiourea (ETU). METHODS: Rat fetuses were utilized, divided into two groups: experimental group - fetuses from rats that ...
Maurício Macedo +2 more
doaj +1 more source

