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9,692 results
  • Hirschsprung's disease and a rare mutation of the PIGO gene: Mabry syndrome. [Case Reports]
    Turk J Pediatr. 2026 Sep 11; 68(4):689-694.Tartar T, Kırık S, Çalık MTJ
  • CONCLUSIONS: It should be remembered that Mabry syndrome can be accompanied by gastrointestinal anomalies, primarily HD. This case highlights the increased phenotypic variability associated with PIGO mutations and demonstrates the importance of genetic assessment in atypical neurodevelopmental conditions.
  • Penile agenesis (aphallia): A rare case report with associated congenital anomalies. [Case Reports]
    Urol Case Rep. 2026 Nov; 69:103607.Alnaqqah MMUC
  • Penile agenesis (aphallia) is an exceptionally rare congenital anomaly with an estimated incidence of one in 10 to 30 million live births. We report a full-term male neonate with complete penile agenesis, a normally developed scrotum with bilaterally palpable testes, and passage of urine through the anus. Investigations revealed a rectovesical fistula, horseshoe kidneys with mild pelvicalyceal di…
  • Surgical management of hirschsprung disease: results of a worldwide survey. [Journal Article]
    Pediatr Surg Int. 2026 Sep 17; 42(1).Vincent SA, Melkonian V, … de la Torre LPS
  • CONCLUSIONS: A global survey of pediatric surgeons identified variation in perioperative management of patients with HD, with 25% of patients experiencing surgical complications. Opportunities for quality improvement and educational efforts to improve outcomes and surgical disparities were detected.
  • Surgical management of fecal incontinence following anorectal malformation repair. [Journal Article]
    Pediatr Surg Int. 2026 Sep 15; 42(1).Wang M, Wang M, … Li LPS
  • CONCLUSIONS: Surgical correction of residual anatomical defects was associated with partial improvement in bowel function in selected children with fecal incontinence after ARM repair, but normal continence was uncommon. Malone appendicostomy or structured bowel management may be preferable in patients with poor sphincteric or neuromuscular reserve.
  • Gastrointestinal symptoms and association to food items in children with hirschsprung disease: a multinational patient-reported outcome study from Latin America and Spain. [Multicenter Study]
    Pediatr Surg Int. 2026 Sep 03; 42(1).Scaramella C, Telborn L, … Lindert JPS
  • CONCLUSIONS: This first multinational Spanish speaking cohort survey demonstrates an association between food items and gastrointestinal symptoms in children with HD. Diet-related gastrointestinal symptoms are common in children with HD and increase with disease extent. Most families identified food items causing symptoms themselves. These findings highlight the need for individualized nutritional counselling as part of multidisciplinary long-term follow-up. Soiling was the main reported symptom in this Hispanic/Latino cohort. These findings emphasize the need for individualized dietary guidance supported by dietitian advice to support bowel function, growth, and quality of life, while preventing nutritional deficiencies.