Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome

Kelly Lamiman, Vasilis Mavratsas, Tanvi Gupta, Erin Cooney, Toy Lee, Claire Cummins, Brendan Gorman, Jonathan Gerber, Ravi Radhakrishnan

Research output: Contribution to journalArticlepeer-review


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. We present a case of a kidney incarcerated in a posterolateral Bochdalek type congenital diaphragmatic hernia (CDH), intestinal malrotation and stage 2 rectocele in KOS. Successful repair of CDH and malrotation was achieved with Ladd's procedure, CDH repair, Nissen fundoplication and gastrostomy tube placement. She had no post-operative complications and is currently tolerating 100% enteral feeds. CDH, intestinal malrotation and rectocele have not been previously reported in KOS. Despite overall poor prognosis, KOS patients with CDH and malrotation can be repaired successfully with improvement in quality of life.

Original languageEnglish (US)
Article number102045
JournalJournal of Pediatric Surgery Case Reports
StatePublished - Dec 2021


  • Congenital diaphragmatic hernia
  • Imprinting disorder
  • Kagami-ogata syndrome
  • Rectocele

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery


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