Figure 2.

Clinical phenotype of family BDCS1. The facial features of BDCS1-17 at 3 months (a, b) and 5 years (c, d) display typical BDCS characteristics including a coarse face, broad forehead, broad nasal bridge, hypertelorism with prominent subocular folds and flat supraorbital ridges. At 5 years, brachydactyly, lateral deviation of the digits, thickened interphalangeal joints and a flexion deformity of the metacarpal joints are clearly evident (e, f). The skeletal dysplasia of BDCS1-17 also included dislocation of the radial head and genu valgum (g).