Results 51 to 60 of about 918 (195)
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
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 +12 more
wiley +1 more source
Fistulectomy and anoplasty for low imperforate anus with anoperineal fistula in boys [PDF]
, 2011 Purpose To present our operative technique for the treatment of anoperineal fistula, discussing its advantages in comparison with other methods of treatment. Patients and methods This study included 35 neonate boys, 34 were full term and one was preterm.
Ibrahim, IA
core +1 more source
Caudal anesthesia for anoplasty in a toddler with uncorrected tetralogy of Fallot: a case report
Патология кровообращения и кардиохирургияBackground: Non-cardiac surgery is prevalent among individuals with a history of cyanotic congenital heart disease (CHD), including tetralogy of Fallot (ToF). Surgical and anesthetic procedures in such patients may lead to multiple complications.
Dini Meta Rica +2 more
doaj +1 more source
Normal Anal Sensibility in Patients Born With Anorectal Malformations
Neurogastroenterology &Motility, Volume 37, Issue 4, April 2025.Normal anal sensibility can be present in ARM patients diagnosed with all types of ARM after they have been treated with corrective surgery. Anal sensibility was better in those with a functional IAS. This means that the IAS, present in the distal end of the fistula, should be spared as much as possible to preserve anal sensibility. In this way, aiming
Venla E. C. den Hollander +2 more
wiley +1 more source
The failed anoplasty: Successful outcome after reoperative anoplasty and sigmoid resection
Journal of Pediatric Surgery, 1998 Children with anorectal malformations often have less than optimal results after repair. The authors report on five patients (ages 3 to 17 years) born with imperforate anus and treated with anoplasty as a newborn. At presentation, all patients were completely incontinent of stool.
openaire +2 more sources
UEG Week 2022 Moderated Posters
, 2022 United European Gastroenterology Journal, Volume 10, Issue S8, Page 185-472, October 2022.
wiley +1 more source
Surgical Strategy for Low Imperforate Anus in Girls -Cutback Anoplasty , Anal Transplantation or Limited Posterior Sagittal Anorectoplasty?- [PDF]
, 2003 From 1991 to 2001, we performed 5 re-operations with limited posterior sagittal anorectoplasty (PSARP) for low imperforate anus in girls who had anteriorly located anus after primary surgery.
Obatake, Masayuki +4 more
core +2 more sources
State of the Art Bowel Management for Pediatric Colorectal Problems: Anorectal Malformations
Children, 2023 Up to 79% of patients with anorectal malformations (ARMs) experience constipation and/or soiling after a primary posterior sagittal anoplasty (PSARP) and are referred to a bowel management program.
Elizaveta Bokova +4 more
doaj +1 more source