Skeletal Dysplasias: Clinico-radiological Review

Skeletal dysplasias constitute a broad group of hereditary disorders with abnormal growth and malformations of cartilage and bone. There is a varied spectrum of clinical severity ranging from mildly effected short stature to lethal forms. They begin during early stages of fetal development and evolve throughout life. Clinical features and radiologic assessment are crucial for narrowing the differentials of this broad group of disorders. However, molecular analysis plays the definitive role for confirmation of diagnosis. A multidisciplinary team of specialists, including radiologists, pediatricians, genetic specialists, orthopedicians, and psychiatrists, is required for management of these disorders. In this article, we describe the features of common skeletal dysplasias, illustrate cases with clinical and radiological parameters for assessment, and discuss the differentiating findings for diagnosis and management.