case_images: PMC3750467_01
case_images: PMC3750467_02
case_images: Clinical presentation of the proband at 8 years of age.
case_images: 1755-8166-6-24-1.jpg
case_images: PMC3750467_02_1755-8166-6-24-1.jpg
case_images: F1
case_images: 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].