“ Congenital abnormality of vertebral segmentation. Fusion of the vertebral bodies and posterior columns at C2/3 is the most common variant ...
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Congenital abnormality of vertebral segmentation. Fusion of the vertebral bodies and posterior columns at C2/3 is the most common variant and causes a restriction of movement. Associated features include a short neck and a low posterior hairline.
Other associations are the Sprengel deformity (25%-40%), syndactyly, clubbed foot, hypoplastic lumbar vertebrae and congenital heart disease (5%, mostly atrial septal defects or coarctation).
US
• 50% have a renal anomaly, commonly ectopia, agenesis or horseshoe kidney.
PLAIN FILM
• Partial fusion of C2 and C3.
• Partial or complete fusion of C1 with the occiput (‘occipitalisation of the atlas’) and hypoplastic C1.
• Scoliosis.
• Hemivertebrae.
• Spinal stenosis.
• Rib fusion.
• Thumb anomalies are common: triphalangeal thumb, hypoplasia and polydactyly.
• Sprengel deformity—look for medial rotation and elevation of the scapula, hypoplastic scapula or an omovertebral bone (connects scapula to the spine).
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