Congenital ocular fibrosis with musculoskeletal abnormality: a new association

Two siblings demonstrated an association of congenital ocular fibrosis (COF) syndrome with musculoskeletal abnormalities consisting of generalized muscle wasting, scoliosis, pigeon-chest deformity, bilateral fusion of the ribs in triplets, prominent coccyx, and sacral dimple. While most of the ocular and systemic "associations" hitherto described in the literature might have been coincidental, the coexistence of a generalized musculloskeletal disease with the COF syndrome raises the possibility that the ocular condition may be part of a more widespread disease process affecting the skeletal muscles.