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Diagnostic Radiology/Musculoskeletal Imaging/Dysplasia Basic/Achondroplasia
From Wikibooks, the open-content textbooks collection
3 Clinical Features
4 Radiologic Findings
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.
Type: Reference Material
Author/Contact: Not available
Submitted by: admin
Added: Fri Dec 01 2006