Ostéogénèse imparfaite létale: diagnostic antenatal

Osteogenesis imperfecta (OI) is a heterogeneous group of diseases affecting type I collagen and characterized by bone fragility. Lethal forms are rare and are characterized by micromelia associated with limb deformities. We report two cases of prenatally diagnosed lethal OI. Patients underwent ultra...

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Autores principales: El Mhabrech, Houda, Zrig, Ahmed, Mazhoud, Ines, Njim, Leila, Hajjeji, Aouatef, Faleh, Raja, Hafsa, Ch
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324159/
https://www.ncbi.nlm.nih.gov/pubmed/28292051
http://dx.doi.org/10.11604/pamj.2016.25.88.5871
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author El Mhabrech, Houda
Zrig, Ahmed
Mazhoud, Ines
Njim, Leila
Hajjeji, Aouatef
Faleh, Raja
Hafsa, Ch
author_facet El Mhabrech, Houda
Zrig, Ahmed
Mazhoud, Ines
Njim, Leila
Hajjeji, Aouatef
Faleh, Raja
Hafsa, Ch
author_sort El Mhabrech, Houda
collection PubMed
description Osteogenesis imperfecta (OI) is a heterogeneous group of diseases affecting type I collagen and characterized by bone fragility. Lethal forms are rare and are characterized by micromelia associated with limb deformities. We report two cases of prenatally diagnosed lethal OI. Patients underwent ultrasound examination at 17 and 25 weeks of amenorrhoea, supplemented with fetal skeletal CT scanning in one case. Therapeutic abortion was recommended in both cases.
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spelling pubmed-53241592017-03-10 Ostéogénèse imparfaite létale: diagnostic antenatal El Mhabrech, Houda Zrig, Ahmed Mazhoud, Ines Njim, Leila Hajjeji, Aouatef Faleh, Raja Hafsa, Ch Pan Afr Med J Case Report Osteogenesis imperfecta (OI) is a heterogeneous group of diseases affecting type I collagen and characterized by bone fragility. Lethal forms are rare and are characterized by micromelia associated with limb deformities. We report two cases of prenatally diagnosed lethal OI. Patients underwent ultrasound examination at 17 and 25 weeks of amenorrhoea, supplemented with fetal skeletal CT scanning in one case. Therapeutic abortion was recommended in both cases. The African Field Epidemiology Network 2016-10-17 /pmc/articles/PMC5324159/ /pubmed/28292051 http://dx.doi.org/10.11604/pamj.2016.25.88.5871 Text en © Houda EL Mhabrech 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
El Mhabrech, Houda
Zrig, Ahmed
Mazhoud, Ines
Njim, Leila
Hajjeji, Aouatef
Faleh, Raja
Hafsa, Ch
Ostéogénèse imparfaite létale: diagnostic antenatal
title Ostéogénèse imparfaite létale: diagnostic antenatal
title_full Ostéogénèse imparfaite létale: diagnostic antenatal
title_fullStr Ostéogénèse imparfaite létale: diagnostic antenatal
title_full_unstemmed Ostéogénèse imparfaite létale: diagnostic antenatal
title_short Ostéogénèse imparfaite létale: diagnostic antenatal
title_sort ostéogénèse imparfaite létale: diagnostic antenatal
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324159/
https://www.ncbi.nlm.nih.gov/pubmed/28292051
http://dx.doi.org/10.11604/pamj.2016.25.88.5871
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