Results 61 to 70 of about 54,715 (162)

FOXD3/FOXD4 is required for the development of hindgut in the rat model of anorectal malformation

, 2018
Congenital anorectal malformation is the most common digestive tract malformation in newborns. It has been reported that FOXD3/FOXD4, a forkhead transcription factor, regulates the generation, migration, and differentiation of neural crest cells. However,
Luo-Jia Wang, Shu-Cheng Zhang, Yu-Zuo Bai, Wei-Lin Wang, Hong Gao   +4 more
core   +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, 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

Association of trisomy 21 with anorectal malformation: a cytogenetic study [PDF]

, 2020
Background: Anorectal malformations (ARM) are congenital malformations of digestive system resulting from the disturbed development of hindgut during embryogenesis.
Rani, Archana, Verma, Rakesh K., Mishra, Dewanshi, Sehgal, Garima   +3 more
core   +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

Colon pouch syndrome. In the spectrum of the anorectal malformaciotions

Acta Pediátrica de México, 2014
Congenital colon pouch syndrome, is an infrequent clinical condition in which the colon is totally o partially replaced by a cystic dilatation, and is associated with an anorectal malformation; which may be a urinary tract fistula, a vaginal or vestibule
Santos Jasso Karla Alejandra, Palestina Carro Oscar   +1 more
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

Dynamic graciloplasty in patients born with an anorectal malformation

, 2004
Dynamic graciloplasty in patients born with an anorectal malformation. Koch SM, Uludag O, Rongen MJ, Baeten CG, van Gemert W. Department of Surgery, University Hospital Maastricht, Maastricht, The Netherlands.
Rongen, M.J.G.M., Koch, S.M., Baeten, C.G.M.I., Uludag, Ö, van Gemert, W.G.   +4 more
core   +1 more source

VY anoplasty for ectropion of anal mucosa in an adult with anorectal malformation

Journal of Pediatric Surgery Case Reports, 2019
Ectropion of anal mucosa (AME) is a possible complication following anorectal surgery and it is often cause of symptoms such as soiling, pain and bleeding affecting the patients' quality of life.
Enrico La Pergola, Francesco Fascetti Leon, Franco Bassetto, Paola Midrio, Piergiorgio Gamba   +4 more
doaj   +1 more source

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