| pubmed-article:2333260 | pubmed:abstractText | The TRPS I has been reported in European, Asian, Australian, and North American populations. To the best of our knowledge, this is the first case reported in the black population. Like many patients with this syndrome, it was the presence of "Perthes-like" disease that eventually lead to the diagnosis. This hip complication is very common, and often bilateral. A review of the literature stresses the importance of early diagnosis in that many patients are presenting late with severe degenerative arthritis. When present, "Perthes-like" changes should direct the observer to look for the abnormal hair and facies that are typical of these syndromes. Radiographs of the hands should also be obtained which will usually reveal the characteristic cone-shaped epiphyses. Clinical or radiographic evidence of multiple cartilaginous exostoses is diagnostic of TRPS II in the presence of other stigmata of the tricho-rhino-phalangeal syndrome (TRPS I). | lld:pubmed |
