PMC4995659_01
Patient at age of 9 years and 9 months. a Multiple facial dysmorphisms include ocular hypertelorism, narrow palpebral fissures and depressed nasal bridge. b, d, e Buffalo hump, thoracic-lumbar scoliosis, lordosis and kyphosis. c Short neck. f Cryptorchidism on the right side and abnormal skin pigmentation. g, h Small hands, fifth finger clinodactyly. i Small feet
13039_2016_274_Fig1_HTML.jpg
PMC4995659_01_13039_2016_274_Fig1_HTML.jpg
Fig1
His physical features include short stature, truncal obesity, short neck, thoracic-lumbar scoliosis, lordosis and kyphosis, small hands and feet, fifth finger clinodactyly, buffalo hump, barrel chest, body asymmetry, cryptorchidism on the right side and abnormal skin pigmentation (Fig. 1).