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Chondro‐osseous changes in cerebro‐oculo‐facial‐skeletal (COFS) syndrome
Author(s) -
Hwang W. S.,
Trevenen C. L.,
Greenberg C.,
Reed M. H.
Publication year - 1982
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.1711380105
Subject(s) - pathological , pathology , medicine , anatomy , etiology , necrosis
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.