RATIONALE Fixed thoracolumbar kyphosis with spinal stenosis in adult patients with achondroplasia presents a challenging issue. We describe the first case in which spondylectomy and minimally invasive lateral access interbody arthrodesis were used for the treatment of fixed severe thoracolumbar kyphosis and lumbar spinal canal stenosis in an adult with achondroplasia. PATIENT CONCERNS A 61-ye...

In an attempt to better define the changes affecting the temporal bone that might predispose achondroplastic dwarfs to otitis media, nine achondroplastic subjects who were evaluated for hearing loss underwent high-resolution CT scanning of the temporal bone. Comparisons were made with 10 nonachondroplastic subjects. A number of morphologic changes were seen, including (1) poor development of ma...

Lack of full extension of the elbow is a common abnormality in patients with achondroplasia. We studied 23 patients (41 elbows) clinically and radiologically. Extension of the elbow was assessed clinically and the angle of posterior bowing of the distal humerus was measured from lateral radiographs. There was limited extension of the elbow in 28 (68.3%) and the mean loss of extension was 13.1 d...

Overnight sleep studies were performed in 20 subjects with achondroplasia to document further the respiratory abnormalities present in this group. Somatosensory evoked potentials (SEPs) were recorded in 19 of the subjects to screen for the presence of brainstem abnormalities, which are one of the potential aetiological mechanisms. Fifteen children aged 1 to 14 years, and five young adults, aged...