Chondro-osseous changes in Cerebro-Oculo-Facial-Skeletal (COFS) syndrome.
Radiological and pathological findings were described in three cases of COFS syndrome. Early diagnosis of this syndrome is possible by the recognition radiologically of the characteristic proximal displacement of second metatarsals and pathologically by the extensive cell necrosis in the iliac crest biopsy. Pathological findings, including the presence of nuclear bodies in chondrocytes and amianthoid fibres surrounding necrotic cartilage cells, are compatible with a primary degenerative/deformative disorder. The aetiology of this syndrome is unknown.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000473:pathology*; D002357:Cartilage Diseases / Q000000981:diagnostic imaging / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000473:pathology*; D008850:Microphthalmos / Q000000981:diagnostic imaging / Q000473:pathology*; D009336:Necrosis; D011859:Radiography; D013577:Syndrome