Rosenberg E, Löhr H
Eur J Pediatr. 1986 Apr;145(1-2):40-5. doi: 10.1007/BF00441850.
An autosomal dominant hereditary bone dysplasia was observed in three members of a Sardinian family living in Germany--the father and two sons. The guiding clinical symptom is thickening of the wrist proximal to the styloid process of the ulna. The radiologically recognizable changes--non-calcified cartilaginous islands protruding like cones into the metaphysis--begin with the onset of puberty and are not always associated with pain. Varying degrees of thickening and bowing of the relatively poorly mineralized metaphyseal region, particularly of the distal ulna, occur at the end of skeletal development. Thickening of the dorsum sellae is also characteristic. Serum calcium levels remain slightly elevated throughout life. The metatarsals, metacarpals and the distal fibula are dysplastic to varying degrees. The two boys display a coxa valga. Skeletal development is retarded. A developmental disorder of the vertebral column may form part of the condition, which defied allocation to any of the acknowledged forms of skeletal disease.
在一个居住在德国的撒丁岛家庭的三名成员——父亲和两个儿子中，观察到一种常染色体显性遗传性骨发育异常。主要临床症状是尺骨茎突近端的手腕增厚。放射学上可识别的变化——未钙化的软骨岛像锥体一样突入干骺端——始于青春期，且并不总是伴有疼痛。在骨骼发育末期，相对矿化不良的干骺端区域，尤其是尺骨远端，会出现不同程度的增厚和弯曲。蝶鞍背增厚也是其特征。血清钙水平在一生中都略有升高。跖骨、掌骨和腓骨远端有不同程度的发育异常。两个男孩表现为髋外翻。骨骼发育迟缓。脊柱发育障碍可能是该病症的一部分，这种病症无法归类到任何一种公认的骨骼疾病形式中。
