Type of assessment | Assessment |
---|---|
Neurological | • Hyperreflexia or persistent clonus • Asymmetric reflexes, early hand preference • Increased head circumference, beyond achondroplasia-specific growth charts • Hypotonia • Irritability • Developmental delay, beyond achondroplasia-specific developmental charts |
Neuroimaging | • Evidence of cord compression on MRI |
Respiratory | • Evidence from polysomnography of central apnoea |