case_images: PMC4243269_01
case_images: PMC4243269_02
case_images: 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.
case_images: 13039_2014_78_Fig1_HTML.jpg
case_images: PMC4243269_02_13039_2014_78_Fig1_HTML.jpg
case_images: Fig1
case_images: 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).