Spranger J
Radiologe. 1976 Jul;16(7):257-61.
Skeletal Dysplasias are an important cause of short stature. Their overall frequency is unknown; their individual number exceeds 80. Prognostic and genetic counseling depend on a correct diagnosis of the specific bone dysplasia. Specific radiographic diagnoses are also needed for the meaningful interpretation of forthcoming histological, ultrastructural and biochemical studies which will help to elucidate the pathogenesis of skeletal dysplasias as prerequisite for a causal therapy.
骨骼发育不良是身材矮小的一个重要原因。其总体发病率尚不清楚;其种类超过80种。预后和遗传咨询取决于对特定骨骼发育不良的正确诊断。对于即将进行的组织学、超微结构和生化研究的有意义解读也需要特定的影像学诊断,这些研究将有助于阐明骨骼发育不良的发病机制,作为因果治疗的前提条件。