PMC4710046_01
PMC4710046_02
The probandat 14 years of age. Note relative macrocephaly, coarse face, broad forehead, deep-set and widely spaced eyes, strabismus, broad nose bridge, shallow philtrum, thick lips. Hand X-ray showed delayed bone age.
13039_2016_214_Fig1_HTML.jpg
PMC4710046_02_13039_2016_214_Fig1_HTML.jpg
Fig1
He had severe short stature and hands X-ray showed delayed bone age (Fig. 1).