PMC6219057_01
a and b Facies showing narrow forehead, thick, bow-shaped eyebrows, synophrys, long smooth philtrum, low set ears, retro-micrognathia and short neck
13039_2018_406_Fig1_HTML.jpg
PMC6219057_01_13039_2018_406_Fig1_HTML.jpg
Fig1
Clinical examination showed dysmorphic facies including, round face with full cheek, narrow forehead, thick bow shaped eyebrows, hypertelorism, long smooth philtrum, downturned corners of the mouth, low set ears, retro-micrognathia and short neck (Fig. 1: a and b).
CT brain without contrast, axial (upper row) and sagittal (lower row) showing abnormal simplified gyral pattern, hypogenesis of corpus callosum, colpocephaly and bilateral deep Sylvian fissure
13039_2018_406_Fig2_HTML.jpg
PMC6219057_01_13039_2018_406_Fig2_HTML.jpg
Fig2
CT brain displayed abnormal gyral pattern, hypogenesis of corpus callosum and bilateral deep Sylvian fissure (Fig. 2).