Clinical Genetics, Volume 108, Issue 6, Page 696-707, December 2025.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam +9 more
wiley +1 more source
FAECAL CONTINENCE AFTER RECONSTRUCTION OF ANORECTAL MALFORMATIONS
Slovenska pediatrija, 2020 The aim of the article is to review anorectal malformations. Babies born with anorectal anomalies need surgical treatment to be able to pass meconium and faeces. Surgical management can sometimes be achieved in a single stage.
Polona Studen Pauletič
doaj +1 more source
Colorectal Disease, Volume 27, Issue 12, December 2025.Abstract Introduction Faecal incontinence (FI) remains a debilitating condition with considerable psychosocial burden. Rechargeable sacral neuromodulation (rSNM) systems offer extended battery longevity and MRI compatibility, potentially reducing surgical burden.
Michael Okocha +6 more
wiley +1 more source
A Terminal Colovesical Fistula in an Anorectal Malformation
Global Pediatric Health, 2020 Anorectal malformations are relatively common anomalies encountered in pediatric surgical practice. They are usually recognized at birth with absent anal canal or failure to pass meconium and hence can lead to life threatening bowel obstruction without ...
Jayalaxmi Shripati Aihole
doaj +1 more source
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand–foot malformation [PDF]
, 2013 PURPOSE: The aims of this study were to identify the mutation gene of a Chinese family with anorectal malformation (ARM) associated with split hand–foot malformation and to determine the spatiotemporal expression of the mutated gene during hindgut and ...
Pengjun Su +4 more
core +1 more source
گزارش 11 مورد نتايج جراحی بیاختياری مدفوع به علت جابجايی رکتوم در کودکان مقعد بسته متعاقب عمل آنورکتوپلاستی [PDF]
, 2010 مينه و هدف: بیاختياری مدفوع متعاقب عمل آنورکتوپلاستی در بيماران مقعد بسته، يکی از عوارض اين عمل در کودکان به شمار میآيد. جابجايی رکتوم و نقص عضله اسفنکتر از علل نسبتاً شايع بیاختياری مدفوع متعاقب عمل آنورکتوپلاستی در بيماران مقعد بسته میباشد.
دلشاد, صلاح الدین
core
“Prevalencia de malformaciones congénitas gastrointestinales en el Hospital Materno Perinatal Mónica Pretelini Sáenz durante el periodo de 2010 a 2015” [PDF]
, 2017 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
Congenital anomalies in low- and middle-income countries: the unborn child of global surgery. [PDF]
, 2014 Surgically correctable congenital anomalies cause a substantial burden of global morbidity and mortality. These anomalies disproportionately affect children in low- and middle-income countries (LMICs) due to sociocultural, economic, and structural ...
AF Uba +53 more
core +3 more sources
Types and Levels of Colostomy in Children with Anorectal Malformation
Siriraj Medical Journal, 2022 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
Simple division of rectourethral fistula as an alternative to ligation during laparoscopic repair of anorectal malformation [PDF]
, 2022 Zahra Al Matar +3 more
openalex +1 more source