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Osteogenesis Imperfecta: A Case Report and Review of Literature
Osteogenesis imperfecta (OI) is a group of rare inherited disorders of connective tissue with the common feature of excessive fragility of bones caused by mutations in collagen. Diagnosis is mainly based on the clinical features of the disorder. We report, the case of a male neonate delivered to a 3...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083720/ https://www.ncbi.nlm.nih.gov/pubmed/25031897 http://dx.doi.org/10.4103/2141-9248.131683 |
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author | Edelu, BO Ndu, IK Asinobi, IN Obu, HA Adimora, GN |
author_facet | Edelu, BO Ndu, IK Asinobi, IN Obu, HA Adimora, GN |
author_sort | Edelu, BO |
collection | PubMed |
description | Osteogenesis imperfecta (OI) is a group of rare inherited disorders of connective tissue with the common feature of excessive fragility of bones caused by mutations in collagen. Diagnosis is mainly based on the clinical features of the disorder. We report, the case of a male neonate delivered to a 33-year-old para 2 female at University of Nigeria Teaching Hospital, Enugu with no family history suggestive of OI. He had clinical features of a type II OI and severe birth asphyxia. Multidisciplinary management was instituted, but he died on the 7(th) day of life. |
format | Online Article Text |
id | pubmed-4083720 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-40837202014-07-16 Osteogenesis Imperfecta: A Case Report and Review of Literature Edelu, BO Ndu, IK Asinobi, IN Obu, HA Adimora, GN Ann Med Health Sci Res Case Report Osteogenesis imperfecta (OI) is a group of rare inherited disorders of connective tissue with the common feature of excessive fragility of bones caused by mutations in collagen. Diagnosis is mainly based on the clinical features of the disorder. We report, the case of a male neonate delivered to a 33-year-old para 2 female at University of Nigeria Teaching Hospital, Enugu with no family history suggestive of OI. He had clinical features of a type II OI and severe birth asphyxia. Multidisciplinary management was instituted, but he died on the 7(th) day of life. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4083720/ /pubmed/25031897 http://dx.doi.org/10.4103/2141-9248.131683 Text en Copyright: © Annals of Medical and Health Sciences Research http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Edelu, BO Ndu, IK Asinobi, IN Obu, HA Adimora, GN Osteogenesis Imperfecta: A Case Report and Review of Literature |
title | Osteogenesis Imperfecta: A Case Report and Review of Literature |
title_full | Osteogenesis Imperfecta: A Case Report and Review of Literature |
title_fullStr | Osteogenesis Imperfecta: A Case Report and Review of Literature |
title_full_unstemmed | Osteogenesis Imperfecta: A Case Report and Review of Literature |
title_short | Osteogenesis Imperfecta: A Case Report and Review of Literature |
title_sort | osteogenesis imperfecta: a case report and review of literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083720/ https://www.ncbi.nlm.nih.gov/pubmed/25031897 http://dx.doi.org/10.4103/2141-9248.131683 |
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