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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2019

Open Access 01-12-2019 | Care | Review

Achondroplasia: a comprehensive clinical review

Author: Richard M. Pauli

Published in: Orphanet Journal of Rare Diseases | Issue 1/2019

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Abstract

Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.
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Metadata
Title
Achondroplasia: a comprehensive clinical review
Author
Richard M. Pauli
Publication date
01-12-2019
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2019
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-018-0972-6

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Orphanet Journal of Rare Diseases 1/2019 Go to the issue

Review

Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines

Review

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review

Research

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

Letter to the Editor

Safety of antithrombotic therapy in subjects with hereditary hemorrhagic telangiectasia: prospective data from a multidisciplinary working group

Research

Segmental schwannomatosis: characteristics in 12 patients

Research

mTOR pathway in human cardiac hypertrophy caused by LEOPARD syndrome: a different role compared with animal models?