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

doi:10.1016/j.epsc.2021.102045

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 journal › Article › peer-review

Abstract

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 language	English (US)
Article number	102045
Journal	Journal of Pediatric Surgery Case Reports
Volume	75
DOIs	https://doi.org/10.1016/j.epsc.2021.102045
State	Published - Dec 2021

Keywords

Congenital diaphragmatic hernia
Imprinting disorder
Kagami-ogata syndrome
Rectocele

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Surgery

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10.1016/j.epsc.2021.102045

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title = "Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome",

abstract = "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.",

keywords = "Congenital diaphragmatic hernia, Imprinting disorder, Kagami-ogata syndrome, Rectocele",

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

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AU - Lamiman, Kelly

AU - Mavratsas, Vasilis

AU - Gupta, Tanvi

AU - Cooney, Erin

AU - Lee, Toy

AU - Cummins, Claire

AU - Gorman, Brendan

AU - Gerber, Jonathan

AU - Radhakrishnan, Ravi

PY - 2021/12

Y1 - 2021/12

N2 - 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.

AB - 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.

KW - Congenital diaphragmatic hernia

KW - Imprinting disorder

KW - Kagami-ogata syndrome

KW - Rectocele

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ER -

Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome

Abstract

Keywords

ASJC Scopus subject areas

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