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Radiological Analysis on Patients With Achondroplasia Disorder

2019-12-07 00:56:45 | BioPortfolio

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.

Study Design

Conditions

Achondroplasia

Intervention

Collection of clinical data registered in Easily software

Location

Hôpital Femme-Mère-Enfant
Bron
France
69500

Status

Not yet recruiting

Source

Hospices Civils de Lyon

Results (where available)

View Results

Links

Published on BioPortfolio: 2019-12-07T00:56:45-0500

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