Results 51 to 60 of about 7,007 (150)

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B ‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula

Journal of Indian Association of Pediatric Surgeons, 2009
The association of rectal diaphragm in an imperforate anus has not been reported until now. A 1-year-old male presented with right transverse colostomy for high anorectal malformation.
Thakur Ashokanand, Dhende N, Mane S, Acharya Himanshu   +3 more
doaj  

Primary presacral neuroendocrine tumor associated with imperforate anus

World Journal of Surgical Oncology, 2007
Background Presacral masses are unusual growths that have a limited differential diagnosis, typically not including neuroendocrine tumors (NETs). Classically, NETs are well-differentiated gastroenteropancreatic tumors of probable benign behavior.
Liu Chen, Grobmyer Stephen R, Kim Tad, Hochwald Steven N   +3 more
doaj   +1 more source

Variable Expressivity in Johanson‐Blizzard Syndrome: A Case With Severe Manifestations and a Review of the Literature

JGH Open, Volume 9, Issue 8, August 2025.
ABSTRACT Background Johanson‐Blizzard syndrome (JBS) is an exceedingly rare, autosomal recessively inherited disorder. It affects both males and females equally. Exocrine pancreatic insufficiency is the most common finding of the syndrome. The clinical presentation varies significantly among cases.
Hanaa Ktyman, Dana Chaker, Haya Ahmad, Hazem Kamil, Ali Ajlouni   +4 more
wiley   +1 more source

Glucagon‐like peptide 1 (GLP‐1) receptor agonists' use during pregnancy: Safety data from regulatory clinical trials

Diabetes, Obesity and Metabolism, Volume 27, Issue 8, Page 4102-4108, August 2025.
Abstract Aims The prevalence of diabetes and obesity continues to rise in women of reproductive age, with significant implications for both mother and foetus. Glucagon‐like peptide‐1 receptor agonists are effective treatments of diabetes and obesity. However, no Glucagon‐like peptide‐1 receptor agonists are currently approved for use during pregnancy ...
Claire H. Parker, Craig Slattery, Donal J. Brennan, Carel W. le Roux   +3 more
wiley   +1 more source

Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature

Prenatal Diagnosis, Volume 45, Issue 8, Page 1027-1038, July 2025.
ABSTRACT Objective Horseshoe lung is a rare congenital malformation in which the lungs are fused by a parenchymal isthmus. The current literature is very limited regarding cases of prenatal diagnosis and their outcome. Method We retrospectively examined three cases of fetuses with horseshoe lung diagnosed antenatally in our center from 2015 to 2024 ...
Benjamin Birene, Paul Maurice, Catherine Garel, Blandine Prevost, Yohan Soreze, Maud Chabaud, Jean‐Marie Jouannic   +6 more
wiley   +1 more source

OEIS complex with a vesico-enteric fistula

Journal of Pediatric Surgery Case Reports, 2018
OEIS complex describes a combination of serious birth defects, including omphalocele, exstrophy of the bladder, imperforate anus, and spinal defects. The complex may be associated with birth defects involving almost every organ system.
Moaied A. Hassan
doaj   +1 more source

Evaluation of an experimental model for anorectal anomalies induced by ethylenethiourea Avaliação de um modelo experimental de anomalia anorretal induzida pela etilenotiouréia

Acta Cirúrgica Brasileira, 2007
PURPOSE: To evaluate an experimental model for anorectal anomalies and their principal associated malformations induced by ethylene thiourea (ETU). METHODS: Rat fetuses were utilized, divided into two groups: experimental group - fetuses from rats that ...
Maurício Macedo, José Luiz Martins, Karine Furtado Meyer   +2 more
doaj   +1 more source

Imperforate anus, multiple intestinal atresia and unilateral facial hypoplasia: A case series

Journal of Pediatric Surgery Case Reports
Introduction: Imperforate anus and intestinal atresia are rare but well understood congenital disorders which affect the alimentary tract. Like intestinal atresia, facial hypoplasia is another congenital anomaly likely secondary to a vascular injury in ...
Joy Ayemoba, Carmelle Romain, Kathryn J. Rowland   +2 more
doaj   +1 more source

Imperforate anus with a rectovestibular fistula and pseudotail: a case report

Journal of Medical Case Reports, 2010
Introduction Human tails and pseudotails are rare sacrococcygeal lesions that are associated with a wide variety of anomalies and syndromes. Anorectal malformations are also relatively uncommon congenital defects that often occur in conjunction with ...
Jackson Gretchen P, Wills Marcia L, Raines Miranda D   +2 more
doaj   +1 more source