Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome

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...

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Autores principales:	Kelly Lamiman, Vasilis Mavratsas, Tanvi Gupta, Erin Cooney, Toy G. Lee, Claire Cummins, Brendan Gorman, Jonathan Gerber, Ravi Radhakrishnan
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Kagami-ogata syndrome Congenital diaphragmatic hernia Rectocele Imprinting disorder Pediatrics RJ1-570 Surgery RD1-811
Acceso en línea:	https://doaj.org/article/f7a9d4584ace4d0a8b408c8dede4de9b
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spelling	oai:doaj.org-article:f7a9d4584ace4d0a8b408c8dede4de9b2021-11-24T04:29:16ZNovel abdomino-pelvic anomalies in Kagami-Ogata syndrome2213-576610.1016/j.epsc.2021.102045https://doaj.org/article/f7a9d4584ace4d0a8b408c8dede4de9b2021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2213576621002669https://doaj.org/toc/2213-5766Kagami-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.Kelly LamimanVasilis MavratsasTanvi GuptaErin CooneyToy G. LeeClaire CumminsBrendan GormanJonathan GerberRavi RadhakrishnanElsevierarticleKagami-ogata syndromeCongenital diaphragmatic herniaRectoceleImprinting disorderPediatricsRJ1-570SurgeryRD1-811ENJournal of Pediatric Surgery Case Reports, Vol 75, Iss , Pp 102045- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Kagami-ogata syndrome Congenital diaphragmatic hernia Rectocele Imprinting disorder Pediatrics RJ1-570 Surgery RD1-811
spellingShingle	Kagami-ogata syndrome Congenital diaphragmatic hernia Rectocele Imprinting disorder Pediatrics RJ1-570 Surgery RD1-811 Kelly Lamiman Vasilis Mavratsas Tanvi Gupta Erin Cooney Toy G. Lee Claire Cummins Brendan Gorman Jonathan Gerber Ravi Radhakrishnan Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome
description	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.
format	article
author	Kelly Lamiman Vasilis Mavratsas Tanvi Gupta Erin Cooney Toy G. Lee Claire Cummins Brendan Gorman Jonathan Gerber Ravi Radhakrishnan
author_facet	Kelly Lamiman Vasilis Mavratsas Tanvi Gupta Erin Cooney Toy G. Lee Claire Cummins Brendan Gorman Jonathan Gerber Ravi Radhakrishnan
author_sort	Kelly Lamiman
title	Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome
title_short	Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome
title_full	Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome
title_fullStr	Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome
title_full_unstemmed	Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome
title_sort	novel abdomino-pelvic anomalies in kagami-ogata syndrome
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/f7a9d4584ace4d0a8b408c8dede4de9b
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Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome

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