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Article

Achondroplasia: Really rhizomelic?

American journal of medical genetics. Part A - 1 Aug 2016

Shelmerdine Susan Cheng, Brittain Helen, Arthurs Owen J, Calder Alistair D

Abstract excerpt

Achondroplasia is the most common form of short limb dwarfism in humans. The shortening of the limb lengths in achondroplasia is widely described as "rhizomelic." While this appearance may be convincing clinically, the description is not necessarily true or helpful radiologically. The aims of this study, were therefore, to determine whether rhizomelic shortening is a true feature of achondroplasia at diagnosis in...

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PMID: 27257098
DOI: 10.1002/ajmg.a.37776

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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