Results 111 to 120 of about 611,084 (238)
Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients
Pediatric Investigation, Volume 9, Issue 3, Page 293-299, September 2025.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
wiley +1 more source
Cutaneous Features of Adams‐Oliver Syndrome: Diagnosis, Differentiation, and Management
Pediatric Dermatology, Volume 42, Issue 5, Page 939-945, September/October 2025.ABSTRACT Adams‐Oliver syndrome (AOS) is a rare genetic disorder primarily characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects. The condition presents with a range of cutaneous features, most notably ACC, cutis marmorata telangiectatica congenita, and nail anomalies.
Sabrina Yang, Joseph M. Lam
wiley +1 more source
The Turkish Journal of Pediatrics, 2015 Intestinal volvulus without malrotation is a rare disease that causes volvulus of the small intestine despite normal intestinal rotation and fixation.
Kaori Hara +8 more
doaj
Surgical Case Reports, 2019 Background Intestinal malrotation, which arises from incomplete rotation of the embryonic midgut, is one of the congenital anomalies usually diagnosed in infancy. On the other hand, intestinal malrotation detected in asymptomatic adults is very rare.
Susumu Inamoto +10 more
doaj +1 more source
Intestinal malrotation: presentation in the older child
Nigerian Journal of Medicine, 2006 The clinical diagnosis of intestinal malrotation in the older child is not always easy because of its non-specific presentations. The aim of this study was to determine the pattern of presentation of malrotation in older Nigerian children.The clinical, radiological and operative records of all the children aged 2 years or above, managed for malrotation
AF Uba, Lohfa B Chirdan, ST Edino
openaire +4 more sources
, 2020 Intestinal malrotation is a congenital disorder resulting from abnormal rotation of the intestine during fetal development. The aim of this study was to evaluate our experience in the management of pediatric patients with intestinal malrotation.
Emeka Chukwubuike Kevin
semanticscholar +1 more source
Gastric Deserosalization: What Lies Behind Closed Doors
Journal of Indian Association of Pediatric Surgeons, 2018 Congenital intestinal malrotation has a wide spectrum of presentation varying from incidental detection to recurrent episodes of benign abdominal pain to frank gastrointestinal obstruction, mid-gut volvulus, and bowel gangrene.
Prabudh Goel +3 more
doaj +1 more source
Saudi Journal of Emergency MedicineBackground: Intestinal malrotation is a congenital anomaly that refers to the failure of the normal fetal rotation of intestines around the superior mesenteric artery and their fixation in the peritoneal cavity, which happens between weeks 5-12 of ...
Sabrina Berdouk, Obaida Farouk
doaj +1 more source
Small bowel haemorrhage associated with partial midgut malrotation in a middle-aged man
World Journal of Emergency Surgery, 2009 We describe a case of life-threatening small bowel haemorrhage in a 56 year old man, who was found to have partial midgut malrotation at laparotomy. An association between congenital malrotation and gastrointestinal haemorrhage has not previously been ...
Peddu Praveen +3 more
doaj +1 more source