Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome.
Two brothers with typical clinical findings of the COFS-syndrome are described. In the cranial CT performed on the younger patient at the age of 2 years and 6 months, foci of intracranial calcification located symmetrically in the region of the lenticular nucleus and hemispheric white matter were noted. This finding is clearly distinguishable from the other known patterns of intracranial calcification and could be pathognomonic of the COFS-syndrome.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D002114:Calcinosis / Q000000981:diagnostic imaging*; D005145:Face / Q000002:abnormalities; D006257:Head / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011877:Radionuclide Imaging; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014057:Tomography, X-Ray Computed