Arthropathy, Erosive

Clinical Features

Teebi et al. (2001) described a 27-year-old man with an apparently distinct syndrome of progressive erosive arthropathy and contractures of small and large joints associated with mild epiphyseal changes, normal vertebrae, and generalized osteopenia. The head was large with frontal bossing. The face was elongated with malar hypoplasia, prominent lower jaw, high-arched palate, dental malocclusion, and prominent ears with absent ear lobules. Dermatologic abnormalities included malar erythema and facial telangiectasia together with multiple nevi and lentigines all over the body. Teebi et al. (2001) excluded the diagnoses of progressive pseudorheumatoid arthropathy (208230) and Borrone dermatocardioskeletal syndrome (249420).