Craniocervical junction issues after infancy in achondroplasia.

ABSTRACT

More information is available concerning risks of craniocervical junction issues in infancy than at later ages. Therefore, we elected to quantify the risks at greater than 1 year of age through a retrospective analysis of 477 individuals with achondroplasia using a REDCap database. Evaluation of these 477 individuals revealed 77 (16.1%) who had pathologic neurologic manifestations after 1 year of age related to the craniocervical junction. Within this subpopulation of 77 individuals, 43 (55.8%) underwent craniocervical decompression surgery, or 9.0% of the total population. Whether decompressed or not, most individuals with craniocervical junction issues after infancy had a normal outcome, without long-term neurological sequelae (57/77, 74.0%). The remaining 20 had various long-term neurological issues. This is the first cohort based estimate of risks related to the upper cervical spine in individuals with achondroplasia specifically beyond infancy.