Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles.

ABSTRACT:

Objective

Osteogenesis imperfecta (OI) is commonly associated with short stature, but it is unclear whether this is exclusively secondary to fractures and bone deformities or whether there is a primary defect in longitudinal bone growth. As metacarpal and phalangeal bones are rarely affected by fractures and deformities, any length deficits in these bones should reflect a direct disease effect on longitudinal growth. This study therefore assessed the relationship of hand bone length with clinical OI type and genotype.

Study design

Prospective study.

Results

The length of all 19 tubular hand bones were measured in 144 individuals (age 6 to 57 years; 68 female) who had OI caused by COL1A1 or COL1A2 variants. Measurements of bone length were converted to z-scores using p

SUBMITTER: Rauch D 

PROVIDER: S-EPMC7502481 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature