n SA Journal of Radiology - Pseudoachondroplasia : report on a South African family : pictorial essay
|Article Title||Pseudoachondroplasia : report on a South African family : pictorial essay|
|Journal||SA Journal of Radiology|
|Affiliations||1 National Health Laboratory Service, 2 University of the Witwatersrand and 3 Tokyo Metropolitan Children's Medical Center, Japan|
|Publication Date||Jan 2013|
|Pages||65 - 67|
Pseudoachondroplasia is an autosomal dominant skeletal dysplasia that results in disproportionately short stature, severe brachydactyly with strikingly lax small joints, malalignments of the lower limbs, and characteristic radiological features. Although named 'false achondroplasia', the entity is a distinct condition, in which affected individuals are born with normal length and have a normal facies, but is often only recognised after the age of 2 years, when the disproportion and waddling gait become evident. We report on an affected South African father and daughter, and highlight their clinical and radiographic features.
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