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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Detalles Bibliográficos
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
Descripción
Sumario: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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