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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.
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Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement

2017-07-13Medicine
This paper tries to correlate the degree of ventricular dilatation, emissary vein enlargement and jugular foramina and foramen magnum narrowing.

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.
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