A systematized approach to radiographic assessment of commonly seen genetic bone diseases in children: A pictorial review

Abstract

Genetic skeletal dysplasias or osteochondrodysplasias constitute a large group of hereditable disorders with generalized skeletal involvement that can cause significant morbidity and mortality. Although most genetic skeletal dysplasias have been well identified clinically, the overlap between dysplasia subtypes may create diagnostic challenges. The plain radiographic presentation of genetic skeletal dysplasias may closely mimic rheumatologic, hematologic, and Perthes disease. Accurate review of the plain radiographic and clinical data may allow to prioritize and conduct gene sequencing tests efficiently. Bone imaging plays a distinctive role in diagnosis. We reviewed the radiologic profile of patients with some commonly seen skeletal dysplasias; achondroplasia, multiple epiphyseal dysplasia, pseudoachondroplasia, spondyloepiphyseal dysplasia tarda, osteogenesis imperfecta, mucopolysaccharidosis, and spondylometaphyseal and spondyloepimetaphyseal dysplasia. We proposed a specific radiographic approach to the differential diagnosis of commonly seen osteochondrodysplasias. The pictorial essay demonstrates that careful plain radiographic evaluation can be a very beneficial tool to the diagnostic process of osteochondrodysplasias.