PMC4970238_01
The proband at 2-year-2-month age. Note cranial deformities, mild craniosynostosis, broad forehead, auricle dysplasia, hypertelorism, strabismus, broad nose with depressed nasal bridge, thick lips, micrognathia and open-mouthed expression, rib protrusion and kyphosis
13039_2016_268_Fig1_HTML.jpg
PMC4970238_01_13039_2016_268_Fig1_HTML.jpg
Fig1
He had skeletal abnormality including rib protrusion and kyphosis, but with normal level of calcium, phosphorus and alkaline phosphatase (Fig. 1).