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Clinical Trial Summary

Achondroplasia is a genetic disorder characterized by disproportionate short stature. It affects about 1 in 2500 live births in the world. The cause of Achondroplasia was identified to be a gain-of-function mutations in the fibroblast growth receptor 3 (FGFR3). In these children compression of the spinal cord at the foramen magnum stenosis can occur in early childhood which, can lead to central sleep apnea. It can lead to morbidity and mortality. A surgical intervention may be indicated in patients who present a foramen magnum stenosis. However, surgical indications are still under discussion. The objective of this retrospective study is to analyse the degree of stenosis and its clinical tolerance/evolution from radiological data monitored at the Hospital Femme Mère Enfant.


Clinical Trial Description

n/a


Study Design


Related Conditions & MeSH terms


NCT number NCT04184817
Study type Observational
Source Hospices Civils de Lyon
Contact Federico DI ROCCO, Pr
Phone 4 72 35 75 72
Email federico.dirocco@chu-lyon.fr
Status Recruiting
Phase
Start date February 15, 2020
Completion date August 2020

See also
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