Abstract
We report an apparently healthy 5-year-old girl with multiple vertebral segmentation defects, partial fusion of some left ribs, abnormal vertebral arches, left renal agenesis, and a 'Cooley-like' hand appearance radiologically. The costovertebral defects were extensive but not contiguous, which establishes this case as being different from the Mendelian forms of spondylocostal dysostosis. The extended skeletal involvement raises the question as to how this case is classified within this heterogeneous group of disorders and we believe this might represent a new and distinct entity.
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