Results 41 to 50 of about 8,061 (206)

Congenital heart defects in children with Gastro-intestinal malformations

Український журнал Перинатологія і педіатрія, 2022
Background. Congenital malformations of the gastrointestinal (GI) tract are common birth defects detected in the neonatal period and usually present with signs of GI obstruction which at times can be life threatening.
A. Khanam, Sh. Abqari, R.A. Khan
doaj   +1 more source

Anal canal duplication in an 11-year-old-child [PDF]

, 2013
Anal canal duplication (ACD) is the least frequent digestive duplication. Symptoms are often absent but tend to increase with age. Recognition is, however, important as almost half of the patients with ACD have concomitant malformations.
De Bruyne, Ruth, Herregods, Nele, MARIS, ELLEN, Meerschaut, V, Van Biervliet, Stephanie, Van de Putte, Dirk, Van Renterghem, Katrien, Van Winckel, Myriam, Vande Velde, Saskia   +8 more
core   +3 more sources

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

Anorectal malformations in neonates

African Journal of Paediatric Surgery, 2011
Background : Anorectal malformations (ARM) are associated with congenital anomalies and other risk factors, yielding a poor prognosis, especially in neonatal life.
Bilal Mirza, Lubna Ijaz, Muhammad Saleem, Muhammad Sharif, Afzal Sheikh   +4 more
doaj   +1 more source

A congenital anterior urethrocutaneous fistula in a boy whose mother was exposed to ionizing radiations: a case report and literature review [PDF]

, 2013
Anterior congenital urethrocutaneous fistula is a rare anomaly that may present in an isolated fashion or in association with other anomalies of the genital urinary tract or anorectal malformations.
C., Menchini, Fregoli, Lorenzo, I., Buti, Mogorovich, Andrea, Spinelli, Claudio, Spisni, Roberto, V., Pucci   +6 more
core   +2 more sources

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

Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]

, 2016
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., Capra, Valeria, Cheng, Guo, Cherny, Stacey S., De Marco, Patrizia, Garcia-Barcelo, Maria-Mercè, Merello, Elisa, Porsch, Robert M., Rodriguez, Laura, Sham, Pak C., So, Manting, Tam, Paul K.   +11 more
core   +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

Causes of constipation after surgical treatment of anorectal malformations with vestibular fistula: a clinical study of 51 children

Di-san junyi daxue xuebao, 2019
Objective To investigate the possible causes of constipation after surgical treatment of anorectal malformations with vestibular fistula (ARMVF). Methods A total of 51 ARMVF children treated in our hospital from January 2015 to December 2017 were ...
WU Fang, GUO Zhenhua, HOU Jinping, SUN Jing, GU Chengchao, WANG Yi   +5 more
doaj   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source