Skeletal Dysplasias: Radiologic Approach with Common and Notable Entities

Abstract

Skeletal dysplasia is a heterogeneous group of abnormalities affecting growth and development of bone and cartilage characterized by disproportionate shortening of the limbs and/or spine. A systematic radiographic approach combined with pertinent clinical details can help guide specific genetic testing and treatment. We provide a discussion and examples of a few common and notable skeletal dysplasias to help familiarize general, pediatric, and musculoskeletal radiologists who do not commonly encounter children with these entities in their daily practices.

Overview of Skeletal Dysplasias

“…The majority of skeletal dysplasias have a distinguishable pattern of skeletal changes, and radiological evaluation of skeletal dysplasias depends on pattern recognition (18). A systematic stepwise radiographic approach can provide a specific diagnosis with the clinical details (1,18,19).…”

“…The majority of skeletal dysplasias have a distinguishable pattern of skeletal changes, and radiological evaluation of skeletal dysplasias depends on pattern recognition (18). A systematic stepwise radiographic approach can provide a specific diagnosis with the clinical details (1,18,19). To determine which parts of the skeleton are mainly affected, a comprehensive skeletal survey including anteroposterior (AP) and lateral view of the skull, spine, and foot, AP view of thorax, pelvis, left hand and wrist, unilateral tubular bone graphies is needed (6,12,19).…”

Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytes

“…Skeletal dysplasias comprise a heterogeneous group of over 450 bone and cartilage diseases with an overall birth incidence of 1 in 5000 (Krakow & Rimoin, 2010;Nemec et al, 2012;Ngo, Thapa, Otjen, & Kamps, 2018;Orioli, Castilla, & Barbosa-Neto, 1986;Superti-Furga & Unger, 2007). In the specific cases of moderate autosomal-dominant brachyolmia and severe metatropic dysplasia, among other dysplasias, arthropathies, and neuropathies, the disease is caused by mutations in transient receptor potential vanilloid 4 (TRPV4), a non-selective cation channel (Andreucci et al, 2011;Sun, 2012).…”