Structured Reporting of Skeletal Survey in Skeletal Dysplasia

Abstract

Skeletal dysplasia represents a big group of disorders with molecularly based skeletal abnormalities. These occur as a result of errors in skeletal development in utero, and the clinical spectrum of disease evolves and affects individual's life based on the lethality of the disorder. There are reported to be at least 400 different types of skeletal dysplasia in the scientific literature, most of which (owing to their rarity), we as radiologist may never come across our careers.[1] The naming and grouping of these disorders are ever changing, posing a further challenge to remember the details of each entity, often required for making a correct diagnosis. Diagnosis is often achieved through a combination of antenatal ultrasonography (where available), postnatal clinical examination, skeletal surveys, and genetic analysis. A multidisciplinary care forms the foundation for the management of an affected child.[2] Prenatal diagnosis of skeletal dysplasia remains challenging; however, in recent times, this certainly has seen an upswing. Some dysplasias display the same physical characteristics, yet are molecularly different, and vice-versa. Although no single unifying features exist, an evaluation of the various sonographic parameters can be performed that are helpful toward making a precise diagnosis.[3]