Exclusion of allelism and close linkage between neurofibromatosis and multiple cartilaginous exostoses.
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A case of grade 1 chondrosarcoma of the phalanx of a finger complicating MHE is presented. Although the cytological features did not include anaplasia, other histological features, the presence of MHE, and recurrence of the tumor after local excision aided in making the correct diagnosis. This case emphasizes the importance of correlating the histological features with the radiological and clinical findings of all bone tumors, and especially cartilaginous lesions.
Sixteen patients with 20 forearm deformities were reviewed. The deformities were classified into three types. The degree of ulnar tilt of the radius, ulnar displacement of the carpus, and relative ulnar shortening were determined. The severity of the deformity correlated with these measurements. Metacarpal lengths were also measured. Significant metacarpal shortening without exostoses was seen in 10 of 11 patients and with exostoses remote from the metaphysis in 10 of 13 patients. Metacarpal shortening correlated with the type and severity of deformity.
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We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases of the TRP II previously thought to have had normal chromosomes.
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On the basis of follow-up examinations it was found that exostoses at the distal ulna often result in shortening of the ulna and curvation of the radius. The resulting deformation of the wrist joint is particularly common in girls with exostoses which are over 7 mm wide and affect the ulnar epiphyseal cartilage. Particularly in the period of growth before puberty the progress of the deformation is considerable. Thus, female patients of group 3 in particular have to be examined carefully; in many cases surgery is necessary, in order to prevent further deformation and possibly even destruction of the radio-ulnar joint.
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