Results 21 to 30 of about 9,792 (217)
Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy. [PDF]
Clin GenetOur patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Ogawa Y +4 more
europepmc +2 more sources
New mutations associated with Hirschsprung disease
Anales de Pediatría (English Edition), 2020 Introduction: Hirschsprung Disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus.
Marta Lorente-Ros +6 more
doaj +1 more source
Bangabandhu Sheikh Mujib Medical University Journal, 2023 Hirschsprung disease is one of the most common and problematic infancy and childhood maladies. Early and accurate diagnosis is a fundamental step in proper management and prevention of complications.
Tasmia Islam +6 more
doaj +1 more source
Abdominal Cellulitis following a Laparoscopic Procedure: A Rare and Severe Complication
European Journal of Pediatric Surgery Reports, 2014 Advantages of laparoscopic approach in Hirschsprung disease have been already published decreasing the hospital stay and postoperative adhesions.
Arnaud Bonnard +5 more
doaj +1 more source
Nature Communications, 2023 Hirschsprung disease is characterized by the absence of enteric neurons caused by the defects of enteric neural crest cells, leading to intestinal obstruction.
Zhixin Li +11 more
doaj +1 more source
Ileal atresia and total colonic hirschsprung disease in a 36‐week neonate: A case report
Clinical Case Reports, 2023 Intestinal atresia and hirschsprung disease are two common causes of bowel obstruction in neonates; simultaneous occurrence is rare. This report delineates a 36‐week newborn with ileal atresia and total colonic hirschsprung who was referred to our unit ...
Khashahyar Atqiaee +3 more
doaj +1 more source
Clinics, 2012 Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine ...
Elisangela P. S. Quedas +6 more
doaj +1 more source
Radiology Perspective One-Year Study of Hirschsprung Disease
Folia Medica Indonesiana, 2021 Hirschsprung disease is a rare developmental disorder of the enteric nervous system. This researched purpose to give an epidemiological database and current trend analysis from radiological perspective of Hirschsprung disease at our center. A prospective
Anastasia Tjan
doaj +1 more source
Late Diagnosed Hirschsprung Disease: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2022 Hirschsprung Disease (HD) is mainly a diagnosis of the neonatal period. It is mostly suspected within the first few days of life, the classical telltale sign is an infant not passing meconium.
Shrayash Khare +2 more
doaj +1 more source
Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant
Clinical Case Reports, 2021 L1syndrome is an X‐linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the L1CAM gene thought to underlie both. We present a
Timothy D. Gauntner +7 more
doaj +1 more source