Achondroplasia
Conditions
Keywords
Achondroplasia, cranio-vertebral abnormalities
Brief 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.
Interventions
OTHERCollection of clinical data registered in Easily software
Collection of clinical data registered in Easily software
Sponsors
Hospices Civils de Lyon
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
Inclusion criteria
* Boys and girls. * Aged from 0 to 18 years old. * Subjects with an Achondroplasia diagnosis. * Patients or parents/ legal guardian must provide non opposition prior to participation in the study.
Exclusion criteria
\- Patients or patient's parents or legal guardian whose have an objection for using their data.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Evaluation of the degree of foramen magnum stenosis, its clinical tolerance and its evolution by radiological clinical data of the patients with Achondroplasia | MRI results in children with Achondroplasia will be collected through study completion an average of 2 year. | 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. |
Countries
France
Contacts
Primary ContactFederico DI ROCCO, Pr
Backup ContactMassimiliano Rossi, MD
Outcome results
None listed