Results 41 to 50 of about 565 (118)

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, Volume 200, Issue 8, Page 1832-1841, August 2026.
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

Spontaneous ileal perforation complicating low anorectal malformation

African Journal of Paediatric Surgery, 2015
Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered.
TiJesuni Olatunji, Matthias Igoche, Pascal Anyanwu, Emmanuel A Ameh   +3 more
doaj   +1 more source

Multidisciplinary Approach in Management of Currarino Syndrome in a Female Infant: A Case Report on Rare Congenital Triad and Focused Literature Review

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Currarino Syndrome (CS) should be suspected in infants presenting with persistent constipation and sacral anomalies. Early diagnosis using appropriate imaging and multidisciplinary surgical management is essential to prevent serious complications such as bowel obstruction, infection, and neurological impairment.
Ferdinand Medard Shilikale, Cui Mingyu, Liu Guihai, Rajabu Athumani Bakari, Jiao Chenwei   +4 more
wiley   +1 more source

Excision of an Anovestibular Fistula with a Normal Anus Using a Biopsy Punch

Case Reports in Surgery, 2022
Among anorectal malformations (ARM), the isolated H type anovestibular fistula (AVF) with a normal anus is a rarity, affecting only approximately 3% of patients with anorectal malformations.
Murat Sanal
doaj   +1 more source

Transition of Care From Pediatric to Adult Services for Patients With Anorectal Malformations: A Qualitative Study

World Journal of Surgery, Volume 50, Issue 8, Page 2372-2379, August 2026.
Little is known about how patients with anorectal malformations (ARMs), their caregivers and healthcare providers perceive and experience transition from pediatric to adult care (transition of care) in low‐ and middle‐income countries. This study aimed to explore the perceptions and experiences of young adults, adolescents, their caregivers, and ...
Leila Hartford, Niveshni Maistry, Giulia Brisighelli, Juan Scribante   +3 more
wiley   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1491-1497, July 2026.
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

Anus-rectum defects.

Medisur, 2005
Anorectal malformations are one of big causes of de intestinal obstruction in newborns. They constitute around 25% of digestive malformations. Have a frequency of 1 in 4000 born alive.
Salvador G. Carrillo Soriano, Ruperto Llanes Céspedes, Sara González Fernández, Jorge Valdés Rodríguez, Miguel González Sabín, Ana Luisa Rodríguez Fernández, Lidia López Martín   +6 more
doaj   +2 more sources

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Updated European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies guidelines for the management of rectosigmoid Hirschsprung's disease 2025

Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 1, Page 185-207, July 2026.
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

ANORECTAL MALFORMATION

, 2023
Anorectal malformations (ARM) are rare anomalies, occurring in approximately 1 in 4,000-5,000 live births according to various publications.
openaire   +1 more source