This web site uses cookies. Do you accept the use of external cookies? Yes No Know more x
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.
If you would like to take the survey later, you can click on the link at the top "Register at BA"

This paper discusses whether neuroimaging should be part of the recommended routine tests done to infants with achondroplasia, based on clinical experience, medical records and on how sensitive clinical examination, medical records and polysomnography findings alone are in identifying cord compression.


The authors conclude that polysomnography and physical examination are poor prdictors of the presence of cord compression and suggest that neuroimaging of the craniocervical junction should be done to all children with achondroplasia during the first 6 months of life (MRI in particular, since CT cannot demonstrate the impact of foramen magnum stenosis on the spinal cord).


Sanders, V. R., Sheldon, S. H., & Charrow, J. (2019). Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine? Genetics in Medicine, 21(2), 459-463. doi:10.1038/s41436-018-0070-0




"Purpose: To examine results of magnetic resonance imaging (MRI), polysomnograms (PSG), and patient outcomes in patients with achondroplasia in light of recent screening recommendations for infants with achondroplasia.

Methods: We reviewed medical records of 49 patients with achondroplasia followed at our institution between September 1997 and January 2017, including physical exams, MRIs, PSGs (when available), and surgical histories. Appropriate PSG data were available for 39 of these patients.

Results: Twenty-seven of 49 patients had cervical cord compression on MRI, and 20 of those patients required surgery. Central apnea was detected in 2/23 patients with cervical cord compression in whom PSG data was available. Physical exam revealed depressed deep-tendon reflexes in two patients with cord compression and one patient without cord compression. Besides hypotonia in some, the neurological exams of these patients were unremarkable.

Conclusions: Cervical cord compression is a common occurrence in infants with achondroplasia and necessitates surgical intervention in some patients. Physical exam and PSG are poor predictors of the presence of cord compression or the need for surgery. All infants with achondroplasia should have MRIs of the craniocervical junction in the first 6 months of life."

To view this site you need Internet Explorer 8 (or a higher version)
or another internet browser.

Thank You.