Respiratory insufficiency in an infant with osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a rare presentation in the pediatric population. Whilst orthopedic manifestations are well-publicised, the multiple respiratory complications and mechanisms of respiratory failure in more severe cases are less well described. We report the clinical, radiological and h...

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Main Authors: Adeline Yi Ling Lim, Ajay Kevat
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Respiratory Medicine Case Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2213007124001308
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author Adeline Yi Ling Lim
Ajay Kevat
author_facet Adeline Yi Ling Lim
Ajay Kevat
author_sort Adeline Yi Ling Lim
collection DOAJ
description Osteogenesis imperfecta (OI) is a rare presentation in the pediatric population. Whilst orthopedic manifestations are well-publicised, the multiple respiratory complications and mechanisms of respiratory failure in more severe cases are less well described. We report the clinical, radiological and histopathological details of the case of an infant with genetically-confirmed OI (Type 2) and associated respiratory insufficiency, as well as summarise the relevant existing literature. This case highlights the importance of the recognition of clinical challenges associated with the management of respiratory complications in a patient with OI.
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series Respiratory Medicine Case Reports
spelling doaj-art-9bc2bd7e4f6642da981c616a611db7a72024-12-13T10:57:41ZengElsevierRespiratory Medicine Case Reports2213-00712024-01-0152102107Respiratory insufficiency in an infant with osteogenesis imperfectaAdeline Yi Ling Lim0Ajay Kevat1Corresponding author.; Department of Respiratory and Sleep Medicine, Queensland Children's Hospital, 501 Stanley Street, South Brisbane, Queensland, 4101, AustraliaDepartment of Respiratory and Sleep Medicine, Queensland Children's Hospital, 501 Stanley Street, South Brisbane, Queensland, 4101, AustraliaOsteogenesis imperfecta (OI) is a rare presentation in the pediatric population. Whilst orthopedic manifestations are well-publicised, the multiple respiratory complications and mechanisms of respiratory failure in more severe cases are less well described. We report the clinical, radiological and histopathological details of the case of an infant with genetically-confirmed OI (Type 2) and associated respiratory insufficiency, as well as summarise the relevant existing literature. This case highlights the importance of the recognition of clinical challenges associated with the management of respiratory complications in a patient with OI.http://www.sciencedirect.com/science/article/pii/S2213007124001308Respiratory insufficiencyOsteogenesis imperfectaPediatric
spellingShingle Adeline Yi Ling Lim
Ajay Kevat
Respiratory insufficiency in an infant with osteogenesis imperfecta
Respiratory Medicine Case Reports
Respiratory insufficiency
Osteogenesis imperfecta
Pediatric
title Respiratory insufficiency in an infant with osteogenesis imperfecta
title_full Respiratory insufficiency in an infant with osteogenesis imperfecta
title_fullStr Respiratory insufficiency in an infant with osteogenesis imperfecta
title_full_unstemmed Respiratory insufficiency in an infant with osteogenesis imperfecta
title_short Respiratory insufficiency in an infant with osteogenesis imperfecta
title_sort respiratory insufficiency in an infant with osteogenesis imperfecta
topic Respiratory insufficiency
Osteogenesis imperfecta
Pediatric
url http://www.sciencedirect.com/science/article/pii/S2213007124001308
work_keys_str_mv AT adelineyilinglim respiratoryinsufficiencyinaninfantwithosteogenesisimperfecta
AT ajaykevat respiratoryinsufficiencyinaninfantwithosteogenesisimperfecta