Spine and rib abnormalities and stature in spondylocostal dysostosis.

STUDY DESIGN: A retrospective study of radiographic and clinical findings of spondylocostal dysostosis. OBJECTIVE: To determine the features of spondylocostal dysostosis diagnosed using consistent diagnostic criteria. SUMMARY OF BACKGROUND DATA: To our knowledge, no clear definition of spondylocostal dysostosis exists, and little information is available regarding its clinical or radiographic features. METHODS: We defined spondylocostal dysostosis as a congenital spinal disorder consisting of >or=2 vertebral anomalies associated with rib anomalies, without crab-like chest. For 30 patients, including 12 males and 18 females, who met these criteria, we evaluated vertebral and rib anomalies, birth and present body height, and associated anomalies. There were only 2 familial cases. RESULTS: Features of spondylocostal dysostosis were: (1) anomalies involved the thoracic region in all cases; many also involved the cervical spine; (2) most patients had >or=4 vertebral anomalies; (3) frequent vertebral anomalies were butterfly vertebra, hemivertebra, complete block, and unilateral bar, which were associated with both rib absence and fusion; (4) short stature was not always present at birth; and (5) complete block was 1 factor identified as being related to short stature after 12 years of age. CONCLUSION: Several features of sporadic spondylocostal dysostosis disorder were determined, including new findings related to body height.