The skeletal dysplasias

Abstract

The skeletal dysplasias are a large, heterogenous group of genetic conditions characterized by abnormal development, growth and maintenance of the elements (bones) that comprise the human skeleton. Many result in disproportionate short stature. The classification of these disorders has evolved over the past 30 years from purely clinical-pathological descriptions to a nosology that now also reflects their underlying molecular aetiology. Accurate diagnosis of these disorders requires comprehensive documentation of the history, analysis of longitudinal growth patterns, rigorous clinical evaluation of the individual and family, complete radiographic survey and, when available, examination of cho..