Are radiologic studies necessary in differentiating rare diseases in children?

Skeletal dysplasias is a general term that refers to a large group of hereditary disorders characterized by abnormal bone and cartilage development. There are almost 400 different disorders classified according to clinical and radiographic features and mode of genetic transmission. In this paper, radiologic characteristics, different imaging modalities and differential diagnosis are presented, since distinction among the various skeletal dysplasias is based largely on radiographic findings. Since radiographic examination and clinical manifestations play significant role in establishing the diagnosis, a multidisciplinary approach to the diagnosis of skeletal dysplasia is required.

Keywords: RARE DISEASES – diagnosis, radiography
Category: Review
Volume: Vol. 57, No 1, january - march 2013
Authors: K. Potočki, M. Prutki
Reference work: Paediatr Croat. 2013;57:27-33

Read more