PMC4862300_01
A 7-year-old boy with microphthalmia, microcornea, prominent root of the nose (a), low set posteriorly placed ears (b), with micropenis, cryptorchidism (c), with syndactyly of the 2nd-3rd toe (d). Magnetic resonance imaging of brain shows hypoplasia of corpus callosum (e), right ventriculomegaly and frontal pachygyria (f)
JPN-11-83-g001.jpg
PMC4862300_01_JPN-11-83-g001.jpg
F1
His magnetic resonance imaging (MRI) showed right frontal pachygyria, right ventriculomegaly, and hypoplasia of corpus callosum, with normal myelination for age [Figure 1].
PMC4862300_02
A 7-year-old boy with microphthalmia, microcornea (a), low set posteriorly placed ears, widely spaced nipples (b), with micropenis, cryptorchidism, lower limb hypertonia (c), with kyphoscoliosis (d). Magnetic resonance images showing corpus callosum agenesis and cerebral atrophy (e and f)
JPN-11-83-g002.jpg
PMC4862300_02_JPN-11-83-g002.jpg
F2
Pupil is atonic [Figure 2].