This 2009 JAAOS review by Shirley and Ain systematically covers the orthopedic manifestations of achondroplasia — the most common skeletal dysplasia (1 in 30,000 live births) — from life-threatening foramen magnum stenosis in infancy through spinal stenosis in adulthood, and addresses the evidence base and controversies around surgical intervention for each.
When you evaluate an infant with achondroplasia, screen immediately for foramen magnum stenosis — it is the leading cause of the 2%–5% infant mortality in this population and presents subtly as snoring or hypotonia.
In skeletally immature patients who need thoracolumbar decompression, plan concurrent spinal arthrodesis from the start: laminectomy alone reliably produces catastrophic postlaminectomy kyphosis in this population.
This 2009 JAAOS review by Shirley and Ain systematically covers the orthopedic manifestations of achondroplasia — the most common skeletal dysplasia (1 in 30,000 live births) — from life-threatening foramen magnum stenosis in infancy through spinal stenosis in adulthood, and addresses the evidence base and controversies around surgical intervention for each.
When you evaluate an infant with achondroplasia, screen immediately for foramen magnum stenosis — it is the leading cause of the 2%–5% infant mortality in this population and presents subtly as snoring or hypotonia.
In skeletally immature patients who need thoracolumbar decompression, plan concurrent spinal arthrodesis from the start: laminectomy alone reliably produces catastrophic postlaminectomy kyphosis in this population.