Further case of metaphyseal acroscyphodysplasia with cone-shaped epiphyses (Bellini disease or metaphyseal dyschondroplasia)

摘要

Metaphyseal acroscyphodysplasia was first described in 1966 by Bellini and Bardare (1966) as a distinctive form of metaphyseal dysplasia. Characteristic radiologic features include cup-shaped metaphyseal deformities of the long bones (especially seen at the distal end of the femur) embedded in cone-shaped deformed epiphyses and central epiphyseometaphyseal fusion. Advanced bone age is frequently found whereas other systemic defects are occasionally observed. Short stature is almost a constant finding in the previously reported cases. The term acroscyphodysplasia literally ('acro' = limb; 'scypho' = cup) describes the radiologic features. We report on a new case of metaphyseal acroscyphodysplasia.