PMC4243269_01
PMC4243269_02
Clinical and iconography description of the patient. A) Present patients appearance and facial characteristics. B) Brain MRI images show brain structural abnormity: (a) T1-weighed sagittal section through the midline, showing corpus callosum hypoplasia; (b) T2-weighed axial section showing colpocephaly; (c) T2-weighed axial section showing asymmetric lateral ventricles; (d) T2-weighed axial section showing choroid fissure cysts on the left. C) Radiographic analysis show skeletal structure abnormity: (a) Thoracic vertebra showed T8-T10 scoliosis rightward; (b) pelvic obliquity.
13039_2014_78_Fig1_HTML.jpg
PMC4243269_02_13039_2014_78_Fig1_HTML.jpg
Fig1
At age 27, evaluation revealed an IQ score of 46, hypotonia, prominent forehead, hypertelorism, long philtrum and, slow nystagmus, ataxic gait, joint laxity, bilateral clinodactyly, talipes cavus, scoliosis, pelvic obliquity, genu valgum on right, and femur length discrepancy of 1 cm (Figure 1A). Brain magnetic resonance imaging (MRI) showed the presence of ACC, colpocephaly, asymmetric lateral ventricles, and choroid fissure cysts on the left (Figure 1B). X-ray showed T8-T10 scoliosis and pelvic obliquity (Figure 1C).