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
-
Author Information
Open or Close
- 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
Full Text
PDF
To view the Full Article Peer-reviewed Article PDF
Abstract
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|