Figure 1.

Clinical appearance of patient with BCS. This patient has a homozygous ZNF469 c.6444delG mutation (patient P3, Rohrbach et al. [6]) and is pictured at 18 years of age: a) face, b) hands and c) feet. Note extensive corneal scarring bilaterally and blue sclerae. Her facial appearance is reminiscent of several other patients with BCS, with a short nose, but otherwise unremarkable morphology. Several naevi are present over her cheeks and the lesions on her forehead are small scabs. In the hands, bilateral clinodactyly is seen, and in the feet, pes planus and scars of previous surgical management of hallux valgus.