Figure 1: A 9-year-old boy with Schwartz-Jampel syndrome. Note the short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia (a) and short stature, coxa valga, kyphosis and joints contractures at the hips, knees and elbows (b)