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Survey about achondroplasia
We have designed a questionnaire with the purpose to better know the population connected to achondroplasia.
The questionnaire is optional and anonymous. The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please consider answering.
If you would like to take the survey later, you can click on the link at the top "Register at BA"

Prevalence of Scoliosis and Thoracolumbar Kyphosis in Patients With Achondroplasia

2017-07-12Medicine
A paper that tries to describe the prevalence of scoliosis and kyphosis in patients with achondroplasia with series of cases.

Cross-sectional assessment of pain and physical function in skeletal dysplasia patients.

2017-07-11Medicine
A paper that aims to describe pain prevalence, characteristics, and the relationship between pain and function.

[Free Full Text] Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia

2017-06-06Medicine
A letter to the editors of Orphanet Journal of Rare Diseases to clear the subject of pregnancy in women with achondroplasia, for which there is little information available. 

[Free Full Texts] Foramen magnum growth in achondroplasia

2017-02-13Medicine
This article is a compilation of information on cervicomedullary compression at the foramen magnum, one of the most serious complications seen in achondroplasia, and other neurological symptoms associated with it. It answers questions as to what these are, how it is formed and what is the current approach to this problem.

[Free Full Text] Defective development and growth of the mandible in achondroplasia

2016-06-15Medicine
This paper describes that mandibular growth and development is defective in people with achondroplasia and that NVP-BGJ398, a tyrosine kinase inhibitor (TKI) corrects this defective growth.

[Free Full Text] Hearing disturbance in achondroplasia

2016-03-20Medicine
This paper describes a case of achondroplasia where Bilateral Ossiculoplasty surgery was performed, a surgery of the ear bones where they are reconnected so that the ear can function properly. It also proposes this surgery as a possible treatment for conductive hearing loss in achondroplasia.
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