Results 51 to 60 of about 7,885 (252)
Frontiers in PediatricsIntroductionFetal ascites is a rare condition that may indicate underlying gastrointestinal malformations, including congenital intestinal malrotation.
Yueyun Liu +3 more
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Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome
Journal of Pediatric Surgery Case Reports, 2021 Kagami-Ogata syndrome (KOS) is a rare genomic imprinting disorder of chromosome 14 with characteristic facial features, a small, bell-shaped thorax, muscular hypotonia, and abdominal wall defects.
Kelly Lamiman +8 more
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Acute appendicitis in intestinal malrotation. Case report.
Revista de la Facultad de Medicina Humana, 2020 Intestinal malrotation is a congenital abnormality of the embryological rotation of the intestine, it is estimated that more than 90% of patients with intestinal malrotation will be presented in the first 12 months of life.
Richard J. Febres Ramos +1 more
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Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients
Pediatric Investigation, EarlyView.NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li +10 more
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Intestinal Malrotation: A Rare Cause of Small Intestinal Obstruction [PDF]
Case Reports in Surgery, 2014 Background. The diagnosis of intestinal malrotation is established by the age of 1 year in most cases, and the condition is seldom seen in adults. In this paper, a patient with small intestinal malrotation-type intraperitoneal hernia who underwent surgery at an older age because of intestinal obstruction is presented.Case.
Kasim Caglayan +4 more
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Mesenteric cyst as a presentation of chronic midgut volvulus in a 12 year old boy
Journal of Pediatric Surgery Case Reports, 2020 Intestinal malrotation is a congenital anomaly of intestinal rotation and fixation that is generally symptomatic in the neonatal population. However, malrotation in an important minority is diagnosed long after infancy and is not manifested by the ...
E. Botchway, N. Tshifularo, M.J. Human
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Insights into Imaging, 2021 Objective To classify adult intestinal malrotation by CT. Methods This retrospective study enrolled adults diagnosed with intestinal malrotation who underwent abdominal CT at our institution between June 1, 2013, and August 30, 2020.
Ziman Xiong +5 more
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Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome
Neurogastroenterology &Motility, EarlyView.Ganglion cells immunohistochemically labeled with pan‐neuronal marker HuC/D in sections from ileum. Note the different number of stained cells in the myenteric plexus. A, control subject, B, patient with SOX10 mutation (hypoganglionosis) C, patient with EDN3 mutation (aganlionosis). Both patients diagnosed with Waardenburg syndrome type 4 including gut
Björn Ersson +3 more
wiley +1 more source
A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis [PDF]
, 2006 The authors describe a case of split notochord syndrome with a neuroenteric fistula in a newborn presenting with meningitis. Associated anomalies included agenesis of the corpus callosum, short colon, malrotation, epispadias, and an abnormally high ...
Lequin, M.H. (Maarten) +3 more
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Clinical Case Reports, Volume 13, Issue 8, August 2025.ABSTRACT In case of situs inversus totalis, acute appendicitis can develop in the left lower quadrant, and delayed diagnosis and complications can occur. Clinicians should be highly suspicious and should use imaging to confirm diagnosis. Detection of anatomical differences leads to intervening steps at an initial stage and optimal surgical success in ...
Waleed Ahmad +4 more
wiley +1 more source