The cerebro-hepato-renal (Zellweger's) syndrome: report of four cases.
Four cases of cerebro-hepato-renal syndrome are described. Radiographic findings of scimitar-shaped calcifications of the patellae and stippled cartilage califications have previously been described. We noted calcifications in the area of the greater trochanters in 2 of our patients, and bell-shaped thoraces in all patients. One of our patients is the longest survivor of the children affected by this syndrome.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001921:Brain / Q000002:abnormalities*; D002114:Calcinosis / Q000000981:diagnostic imaging; D002358:Cartilage, Articular / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008099:Liver / Q000002:abnormalities*; D008297:Male; D010329:Patella / Q000000981:diagnostic imaging; D011859:Radiography