Achondroplasia Wikibooks

Description: Diagnostic Radiology/Musculoskeletal Imaging/Dysplasia Basic/Achondroplasia From Wikibooks, the open-content textbooks collection 1 Definition 2 Etiology 3 Clinical Features 4 Radiologic Findings 5 References Definition Achondroplasia is a common nonlethal form of chondrodysplasia. It is transmitted as an autosomal dominant trait with complete penetrance. De novo mutations cause 75-80% of cases. The mutation rate is estimated to be 0.000014 per gamete per generation. Cardinal features include short stature, rhizomelic shortening of the arms and legs, a disproportionately long trunk, trident hands, midfacial hypoplasia, prominent forehead (frontal bossing), thoracolumbar gibbus, true megalencephaly, and caudal narrowing of the interpedicular spaces.