Affordable Access

deepdyve-link
Publisher Website

Kagami-Ogata Syndrome: Case Series and Review of Literature

Authors
  • Sakaria, Rishika P.1
  • Mostafavi, Roya2
  • Miller, Stephen3, 4
  • Ward, Jewell C.4
  • Pivnick, Eniko K.4, 5
  • Talati, Ajay J.1
  • 1 Department of Pediatrics, Division of Neonatal-Perinatal Medicine, University of Tennessee Health Science Center, Memphis, Tennessee
  • 2 Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee
  • 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
  • 5 Department of Ophthalmology, University of Tennessee Health Sciences Center, Memphis, Tennessee
Type
Published Article
Journal
AJP Reports
Publisher
Thieme Medical Publishers, Inc.
Publication Date
Apr 01, 2021
Volume
11
Issue
2
Identifiers
DOI: 10.1055/s-0041-1727287
PMID: 34055463
PMCID: PMC8159623
Source
PubMed Central
Keywords
Disciplines
  • Case Report
License
Unknown

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.

Report this publication

Statistics

Seen <100 times