Clinical evocation on short stature associated
with facial skeletal anomalies and hypernasality. There is no 22q11
microdeletion. There is no mental retardation. Clinical features involve
orofacial structures (epicanthal folds, hypertelorism, posteriorly angulated ears, narrow and
high-arched palate, broad and high nasal bridge) and skeleton (delayed bone age,
mesomelic brachymelia, short broad hands, short stubby thumbs, prominent
finger pads, small feet, hyperextensible hand joints).