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CC BY-NC-ND 4.0 · AJP Rep 2021; 11(02): e65-e75
DOI: 10.1055/s-0041-1727287
Case Report

Kagami-Ogata Syndrome: Case Series and Review of Literature

Rishika P. Sakaria 
1   Department of Pediatrics, Division of Neonatal-Perinatal Medicine, University of Tennessee Health Science Center, Memphis, Tennessee
,
Roya Mostafavi
2   Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee
,
Stephen Miller
3   Department of Radiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, Tennessee
4   Department of Pediatrics, Division of Medical Genetics, University of Tennessee Health Sciences Center, Memphis, Tennessee
,
Jewell C. Ward
4   Department of Pediatrics, Division of Medical Genetics, University of Tennessee Health Sciences Center, Memphis, Tennessee
,
Eniko K. Pivnick
4   Department of Pediatrics, Division of Medical Genetics, University of Tennessee Health Sciences Center, Memphis, Tennessee
5   Department of Ophthalmology, University of Tennessee Health Sciences Center, Memphis, Tennessee
,
Ajay J. Talati
6   Department of Pediatrics, Division of Neonatal-Perinatal Medicine, University of Tennessee Health Science Center, Memphis, Tennessee
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Abstract

Kagami-Ogata syndrome (KOS) (OMIM #608149) is a genetic imprinting disorder affecting chromosome 14 that results in a characteristic phenotype consisting of typical facial features, skeletal abnormalities including rib abnormalities described as “coat hanger ribs,” respiratory distress, abdominal wall defects, polyhydramnios, and developmental delay. First identified by Wang et al in 1991, over 80 cases of KOS have been reported in the literature. KOS, however, continues to remain a rare and potentially underdiagnosed disorder. In this report, we describe two unrelated male infants with differing initial presentations who were both found to have the characteristic “coat hanger” rib appearance on chest X-ray, raising suspicion for KOS. Molecular testing confirmed KOS in each case. In addition to these new cases, we reviewed the existing cases reported in literature. Presence of polyhydramnios, small thorax, curved ribs, and abdominal wall defects must alert the perinatologist toward the possibility of KOS to facilitate appropriate molecular testing. The overall prognosis of KOS remains poor. Early diagnosis allows for counseling by a multidisciplinary team and enables parents to make informed decisions regarding both pregnancy management and postnatal care.

Keywords

paternal UPD(14) - coat-hanger ribs - 14q32.2 - omphalocele


Publication History

Received: 28 December 2020

Accepted: 08 February 2021

Article published online:
27 May 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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