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 Type
OBSERVATIONAL
Enrollment
60
Collection of clinical data registered in Easily software
Hôpital Femme-Mère-Enfant
Bron, France
RECRUITINGEvaluation of the degree of foramen magnum stenosis, its clinical tolerance and its evolution by radiological clinical data of the patients with Achondroplasia
All patients with Achondroplasia pathology followed at the Hôpital Femme Mère Enfant can be included in this study. The patients can present spinal column abnormalities such as foramen magnum stenosis. All patients diagnosed with Achondroplasia had the MRI. The MRI results will be used to evaluate the degree of deformity of stenosis and its clinical tolerance as well as its evolution. These results will help us to detect the compression at the foramen magnum to prevent lethal complications. The endpoint choice of this retrospective study will be the MRI of the first visit and the last visit.
Time frame: MRI results in children with Achondroplasia will be collected through study completion an average of 2 year.
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