Indian J Med Microbiol Close
 

Figure 1: (A) Clinical photograph showing coarse facies, widely spaced teeth, synophrys, open mouth (white arrow), and short neck. (B) Photograph showing bilateral equinovalgus (black arrow) and hammer toe deformity. (C) X-ray of hand showing osteopenia but no dysostosis multiplex (black arrow). (D) Fluid-attenuated inversion recovery axial view of MRI of brain showing hyperintensities (white arrow) in bilateral periventricular region. (E and F) Sagittal section of MRI of brain showing atrophy of body corpus callosum (white arrow) and superior cerebellar atrophy (white arrow)

Figure 1: (A) Clinical photograph showing coarse facies, widely spaced teeth, synophrys, open mouth (white arrow), and short neck. (B) Photograph showing bilateral equinovalgus (black arrow) and hammer toe deformity. (C) X-ray of hand showing osteopenia but no dysostosis multiplex (black arrow). (D) Fluid-attenuated inversion recovery axial view of MRI of brain showing hyperintensities (white arrow) in bilateral periventricular region. (E and F) Sagittal section of MRI of brain showing atrophy of body corpus callosum (white arrow) and superior cerebellar atrophy (white arrow)