Two novel COL2A1 mutations associated with a Legg-Calve-Perthes disease-like presentation.

ABSTRACT:

Background

Abnormal development and growth of the capital femoral epiphysis and acetabulum are associated with a wide variety of underlying etiologies, one of which is Legg-Calvé-Perthes disease.

Case description

We report the cases of two children who presented with abnormal development of both hips and in whom novel mutations in the COL2A1 gene were found. These cases illustrate the importance of identifying individuals with a type II collagen abnormality, as it informs management, allows investigation for other complications, and provides the opportunity for accurate genetic counseling and consideration of other family members who might be at risk.

Literature review

The literature documents numerous private mutations in COL2A1 associated with diverse clinical pheno

SUBMITTER: Kannu P 

PROVIDER: S-EPMC3094608 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature