The patient's procollagen formed insoluble aggregates with abnormal facility. The type I collagen synthesized by the patient's fibroblasts was secreted into the medium abnormally slowly. When fibroblasts were incubated with tritiated-mannose, type I procollagen contained 2 to 3 times more labeled-mannose than that from normal fibroblasts, although type III procollagen produced simultaneously by the patient's fibroblasts was not abnormal. Whether this represented Sillence's type III OI or new mutation for Sillence's type I OI ( 166200) was not clear. He developed severe kyphoscoliosis and multiple limb deformities. He had blue sclerae, but normal dentition. (1980) studied procollagen synthesis by fibroblasts from a male patient who died at age 18 years after a fall from his wheelchair. Some of the cases referenced in 166210 presumably represent this type. (1979) observed 2 families with consanguineous parents. Dentinogenesis imperfecta is particularly striking, especially in the primary dentition. Patients reported in the literature with normal sclerae have shown progressive deformity of the limbs in childhood and of the spine in late childhood and adolescence. Scleral hue, which may be bluish at birth, usually normalizes with age. (1979) found type III OI to be about one-eighth as frequent as dominantly inherited OI with blue sclerae.
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