Results 1 to 10 of about 3,842 (168)

Role of MRI in Preoperative and Postoperative Evaluation of Anorectal Malformation

SVU - International Journal of Medical Sciences
Background: Anorectal malformations (ARMs) are among the most common congenital defects seen in pediatric surgery, with an estimated incidence of 1 in 2000 to 1 in 5000 live births.
Gehad Mostafa Sayed , Ahmed Okasha Mohamed , Nezar Abdelraouf Abo Halawa, Abd Alraheem Hussein Ali   +3 more
doaj   +1 more source

The rare case of a true rectovaginal fistula and its repair

Journal of Pediatric Surgery Case Reports, 2019
Background: Within the spectrum of anorectal malformations, congenital rectovaginal fistulae are a rare but treatable entity. These less common variates can be treated much in the same fashion as other malformations such as imperforate anus or ...
Carly R. Richards, Nicole R. Lafferriere, Sidney M. Johnson   +2 more
doaj   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Rectal duplication associated with rectoperineal fistula: A case report

Journal of Pediatric Surgery Case Reports, 2023
Introduction: Rectal duplication is a rare condition with less than 100 cases documented in the literature. There are eleven reported cases of rectal duplication and anorectal malformation occurring concurrently.
Noah Brown, Robert Swendiman, Douglas Barnhart, Scott Short, Michael Rollins   +4 more
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

15-Year-old with neglected recto-vestibular fistula in western Uganda: a case report

Journal of Medical Case Reports, 2021
Background Teenage and late presentation of anorectal malformations are not uncommon in developing world. Some of the reasons for late presentation include but not limited to illiteracy, poverty, lack of awareness, and limited trained pediatric surgeons.
Felix Oyania, Meera Kotagal, Martin Situma   +2 more
doaj   +1 more source

Updated ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease 2025

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives To revise the 2018 European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies (ERNICA) clinical guideline for the management of rectosigmoid Hirschsprung's disease (HSCR) based on new evidence and evolving clinical priorities, ensuring continued relevance, trustworthiness, and consistency ...
Daniel Rossi, Willemijn Irvine, Anna Löf Granström, Annika Mutanen, Roel Bakx, Kristin Bjørnland, Duccio Cavalieri, Piotr Czauderna, Anne Dariel, Mark Ellebæk, Francesco Fascetti Leon, Fabio Fusaro, Dirk‐Jan Gloudemans, Marietta Jank, Peter Kolja Kvist, Martin Lacher, Annette Lemli, Lucas Matthyssens, Louise Montalva, Pedro Palazon, Alessio Pini Prato, Lucie Pos, Roxana Rassouli‐Kirchmeier, Konrad Reinshagen, Nagoud Schukfeh, Rony Sfeir, Olivia Spivack, Pernilla Stenström, Lovisa Telborn, Eelke Toxopeus, Alejandra Vilanova, Miriam Wilms, Rene Wijnen, Cornelius E. J. Sloots, Mikko Pakarinen, Tomas Wester   +35 more
wiley   +1 more source

Five-year experience of anorectal malformation with oesophageal atresia in tertiary care hospital

African Journal of Paediatric Surgery, 2020
Aim: We had done this study for TEF with Anorectal malformation and TEF with no Anorectal malformation in terms of age, sex, surgical outcomes and mortality.
Sarita Chowdhary, Pranay Panigrahi, Rakesh Kumar   +2 more
doaj   +1 more source

Colonic agenesis with anorectal malformation – Rarest variant of congenital short colon

Journal of Indian Association of Pediatric Surgeons, 2022
We report a case of colonic agenesis with anorectal malformation in a newborn girl. The patient also presented with congenital heart disease. We are presenting the clinical features, intraoperative findings, and treatment plan.
Rashi Rashi, Amit Kumar, Ram Jeewan Singh, Shreyas Dudhani, Amit Kumar Sinha, Bindey Kumar   +5 more
doaj   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source