PMC3750467_01
PMC3750467_02
Clinical presentation of the proband at 8 years of age.
1755-8166-6-24-1.jpg
PMC3750467_02_1755-8166-6-24-1.jpg
F1
The prominent dysmorphic features were ptosis, downward slanted palpebral fissure, microphthalmia, left convergent strabismus, wide nasal base, long philtrum, open mouth, low set ears, short neck, micrognathia, puffy cheeks, short fingers, bilateral 1st incurved finger and absence of thenar eminence [Figure 1].