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ISSN: 2643-6760

Surgery & Case Studies: Open Access Journal

Review Article(ISSN: 2643-6760)

Osteogenesis Imperfecta: about One Case and Literature Review

Volume 5 - Issue 2

Andrianarison Lofo Heriniaina*, Ranaivomanana Volahasina Francine, Andriambelo Zinambatosoa Andrianina and Randrianjafisamindrakotroka Nantenaina Soa

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    • UPFR Anatomy and Cytology Pathology Unit, University Hospital – Joseph Ravoahangy Andrianavalona – Antananarivo

    Corresponding author:Andrianarison Lofo Heriniaina, UPFR Anatomy and Cytology Pathology Unit, University Hospital – Joseph Ravoahangy Andrianavalona – Antananarivo, CHU Antananarivo 101 Madagascar

Received:June 05, 2020   Published:June 12, 2020

DOI: 10.32474/SCSOAJ.2020.05.000206

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Osteogenesis imperfecta is a rare congenital pathology with an incidence approximately 1/15,000 to 1/20,000 births. It is an autosomal dominant genetic disease cause by an abnormality type I of collagen with a mutation in the COL1A1 or COL1A2. It is characterized by a frailty and bone deformity with growth retardation. It can be viable or lethal, according to the type. Prenatal diagnosis is based in imaging examinations and can be confirmed by cytogenic examination. In our country, financial problem is often a blockage for prenatal imaging examinations and the technical platform is insufficient for a cytogenic examination. The aim of our study is to describe an osteogenesis imperfecta case, in order to improve its prenatal diagnosis and to demonstrate the interest of the fetal autopsy in a country where the means of diagnosis are limited. This is to properly guide genetic counseling and for a better care of a subsequent pregnancy.

Abstract| Introduction| Case Presentation| Discussion| Conclusion| References|