Perinatal lethal type II osteogenesis imperfecta: a case report

We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Pare...

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Autores principales: Ayadi, Imene Dahmane, Hamida, Emira Ben, Rebeh, Rania Ben, Chaouachi, Sihem, Marrakchi, Zahra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561136/
https://www.ncbi.nlm.nih.gov/pubmed/26401205
http://dx.doi.org/10.11604/pamj.2015.21.11.6834
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author Ayadi, Imene Dahmane
Hamida, Emira Ben
Rebeh, Rania Ben
Chaouachi, Sihem
Marrakchi, Zahra
author_facet Ayadi, Imene Dahmane
Hamida, Emira Ben
Rebeh, Rania Ben
Chaouachi, Sihem
Marrakchi, Zahra
author_sort Ayadi, Imene Dahmane
collection PubMed
description We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. Death occurred on day 25 of life related to respiratory failure.
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spelling pubmed-45611362015-09-23 Perinatal lethal type II osteogenesis imperfecta: a case report Ayadi, Imene Dahmane Hamida, Emira Ben Rebeh, Rania Ben Chaouachi, Sihem Marrakchi, Zahra Pan Afr Med J Case Report We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. Death occurred on day 25 of life related to respiratory failure. The African Field Epidemiology Network 2015-05-05 /pmc/articles/PMC4561136/ /pubmed/26401205 http://dx.doi.org/10.11604/pamj.2015.21.11.6834 Text en © Imene Dahmane Ayadi et al. http://creativecommons.org/licenses/by/2.0/ The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ayadi, Imene Dahmane
Hamida, Emira Ben
Rebeh, Rania Ben
Chaouachi, Sihem
Marrakchi, Zahra
Perinatal lethal type II osteogenesis imperfecta: a case report
title Perinatal lethal type II osteogenesis imperfecta: a case report
title_full Perinatal lethal type II osteogenesis imperfecta: a case report
title_fullStr Perinatal lethal type II osteogenesis imperfecta: a case report
title_full_unstemmed Perinatal lethal type II osteogenesis imperfecta: a case report
title_short Perinatal lethal type II osteogenesis imperfecta: a case report
title_sort perinatal lethal type ii osteogenesis imperfecta: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561136/
https://www.ncbi.nlm.nih.gov/pubmed/26401205
http://dx.doi.org/10.11604/pamj.2015.21.11.6834
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AT hamidaemiraben perinatallethaltypeiiosteogenesisimperfectaacasereport
AT rebehraniaben perinatallethaltypeiiosteogenesisimperfectaacasereport
AT chaouachisihem perinatallethaltypeiiosteogenesisimperfectaacasereport
AT marrakchizahra perinatallethaltypeiiosteogenesisimperfectaacasereport

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