PMC4581134_01
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)
ABR-4-163-g001.jpg
PMC4581134_01_ABR-4-163-g001.jpg
F1
On physical examination, he had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears and micrognathia [Figure 1a]. He also had a short stature for age and several skeletal deformities including kyphosis, coxa valga, significant limitations of joints range of motion including fixed contractures of hips, knees and elbows [Figure 1b].