case_images: PMC3065313_01
case_images: The clinical characteristics of the patient
case_images: JCRPE-3-29-g1.jpg
case_images: PMC3065313_01_JCRPE-3-29-g1.jpg
case_images: fg2
case_images: He had deep-set small eyes, frontal bossing, a flat occiput, parietal prominence, bilateral congenital cataract, cryptorchidism on the left side, joint hypermobility, decreased muscle tone, and hyporeflexia (Figure 1).