Reproductive options for families at risk of Osteogenesis Imperfecta: a review.

ABSTRACT:

Background

Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in more than 20 different genes can lead to OI, and phenotypes can range from mild to lethal forms. As a genetic disorder which undoubtedly affects quality of life, OI significantly alters the reproductive confidence of families at risk. The current review describes a selection of the latest reproductive approaches which may be suitable for prospective parents faced with a risk of OI. The aim of the review is to alleviate suffering in relation to family planning around OI, by enabling prosp

SUBMITTER: Zhytnik L 

PROVIDER: S-EPMC7251694 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature