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Achondroplasia Wikibooks

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Location: http://en.wikibooks.org/wiki/Diagnostic_Radiology/Musculoskeletal_Imaging/Dysplasia_Basic/Achondropl ...

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.

Type: Reference Material
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Institution: Wikibooks
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Language: English

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Added: Fri Dec 01 2006