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Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome Volume 24, issue 3, June 2022

Figure 1.

Dysmorphic features of the patient. (A, C) Coarse and round expressionless face, sloping forehead, low-set posterior and high-set anterior hairline with diffuse hypotrichosis and a short neck which is everted and slightly low-set with posteriorly rotated ears. (C, E) Hypertelorism and arched sparse eyebrows, mainly in the lateral third with narrow down-slanting palpebral fissures, ptosis and periorbital fullness, with broad nasal bridge and tip with uplifted and slightly thickened alae nasi, squared nostrils, smooth philtrum, down-turned tent-shaped vermilion of the upper lips that tapered distally and fulleverted lower lip, retrognathia with groove of the chin and down-turned corners of the mouth, mandibular hypoplasia, crowding and misalignment of small and morphologically abnormal teeth, and disproportional head size compared to the trunk. (B) Short stature, broad chest with sloping shoulders and rhizomelic shortening of the extremities; in the standing posture, the patient demonstrates a mildly wide base while leaning slightly forward. (D) Broad and short hands with brachydactyly and contraction of proximal interphalangeal joints of the fourth and fifth fingers bilaterally.

Figure 2.

Brain MRI scan of the patient showing microcephaly with sloping of the forehead and a complex brain malformation. (A) Left side T1-weighted parasagittal image showing polymicrogyria (orange contour) in the perisylvian region. (B) Right side T1-weighted parasagittal image showing polymicrogyria in the perisylvian region (blue contour). (C) Coronal T1-weighted image showing bilateral perisylvian polymicrogyria (red and blue contour). (D) Coronal T1-weighted image showing enlarged ventricles and extension of the polymicrogyria (blue contour) to the right fronto-parietal operculum. (E) Thin corpus callosum, mega cisterna magna and cerebellar hypoplasia. The vertebral malformation is characterized by non-segmentation (lower yellow arrow) of anterior C1-C2 and fusion of posterior elements with a bifid spinous process. A narrow spinal canal is seen with probable spinal stenosis of C2-C3. Tortuosity and dolicoectasia of cerebral arteries are also evident (middle and upper yellow arrows). (F) Axial T2-weighted image showing a large megacisterna magna and CSF flow (yellow star), the falx of the cerebellum (large yellow arrow) and a vessel (thin yellow arrow). (G) Axial T1-weighted image showing C1-C2 fusion (yellow star) and a C1-C2 bifid spinous process (yellow arrow). (H) Coronal T1-weighted image showing C1-C2 segmentation failure (yellow arrow).