Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.

ABSTRACT:

Background

Multiple epiphyseal dysplasia is a common skeletal dysplasia characterized by mild short stature, early-onset osteoarthritis mainly involving the hip and knee joints, and abnormally small and/or irregular epiphyses. Multiple epiphyseal dysplasia is clinically and genetically heterogeneous and six genes are associated with the phenotype of multiple epiphyseal dysplasia.

Case presentation

A 12-year-old Korean boy presented with intermittent knee pain. His height was 144.6 cm (20th percentile) and family history was notable for early-onset osteoarthritis in his father. The proband's x-rays revealed epiphyseal changes characteristic of multiple epiphyseal dysplasia associated with a collagen IX defect, with manifestations primarily restricted to the knees. Mutational

SUBMITTER: Jeong C 

PROVIDER: S-EPMC4236474 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature