Figure 1.

Appearance of proband 1 at the age of 12 years: (A) facial features present, such as bushy eyelashes and eyebrows, strabismus, hypertelorism, eyelids turned down, anteverted nostrils, long philtrum, wide mouth, and easy positioning of the shoulders toward the center; (B) cubitus valgus and genu varum; (C) hypodontia and oligodontia; (D) X-ray panoramic view shows supernumerary teeth and delayed eruption of permanent teeth; (E) X-ray cranial lateral and frontal show mild open suture at the temporal, frontal region (black arrow), and Wormian bones at the temporal region (black arrow); (F) clavicle hypoplastic.