As her family findings indicated, the phenotypic spectrum of COL2A1 mutations may be difficult to diagnose, leading to concern regarding the possibility of misdiagnosis as type II collagenopathy presenting as LCP[3] (in patients 0 to 18 years of age), AVN[2] (in patients 18 to 45 years of age) or OA (in patients 45 years of age and older). Here, COL2A1 is linked to Legg-Calve-Perthes disease.