Nasal dermal sinus cysts with intracranial extension in a child mosaic for a supernumerary ring chromosome 20

(A) Five months old patient, note prominent forehead, round course face with hypertelorism, epicanthus, wide flat nasal bridge, wide nostrils, long philtrum and low-set small and thick ears. (B) 3.5 years old patient, note dimple at base of nose in midline.

GTG-banded metaphase spread of the patient showing the marker chromosome (arrow indicate two homolog pair of chromosome 20 and marker chromosome).

(A) FISH using whole chromosome painting (wcp) probe specific for chromosome 20 (green signal), probe specific for the centromeric region chromosome 20 (red signal) on a child's metaphase spread. Homolog pair of chromosome 20 is painted in green and centromere 20 in red. Arrow indicate the small ring chromosome (20p) of the patient. (B) FISH using locus specific probe for region 20q12 (PTPRT) is painted in red and 20q11.21 (MAPRE1) is painted green. Arrow indicate the small ring chromosome was negative for red signal showing breakpoint.

Presentation of T1 weighted MRI scans of nasal dermoid, sagittal view (A) and coronal view (B).

Dissection of nasal dermal sinus cyst.

Coronal view of the CT scan of the frontal nasal region afer cyst removal with integrated titanium plate.