A Novel p. Gly630Ser Mutation of COL2A1 in a Chinese Family with Presentations of Legg–Calvé–Perthes Disease or Avascular Necrosis of the Femoral Head
Figure 1
Radiograph of the family members.
Radiographs of the pelvis of the family members III-6 (A) and III-7 (B), diagnosed with LCPD, reveals abnormalities of the capital femoral epiphyses, flattening of the acetabular roof with cystic degeneration, coxa plana (coxa vara and elevation of the greater trochanter of the femur) (arrow). The radiographs of the hip in family member IV-7 (C) and IV-8 (D) shows partial collapse of the femoral head, without coxa plana (arrow); the patient was diagnosed with ANFH. The radiograph of the family member IV-9 (E) did not exist typical manifestations. In addition, The X-ray of the family members III-6, III-7, IV-7, IV-8, IV-9 were made at the age of 41, 38, 15, 15 and 7 years old respectively.