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Spondylocostal dysostosis: dominant type.

作者信息

Lorenz P, Rupprecht E

机构信息

Department of Clinical Genetics, Medical Academy Dresden Carl Gustav Carus, German Democratic Republic.

出版信息

Am J Med Genet. 1990 Feb;35(2):219-21. doi: 10.1002/ajmg.1320350215.

Abstract

We report on a father and daughter who have spondylocostal dysostosis. The girl's ribs are more severely abnormal than those of the 2 previously reported cases of dominant spondylocostal dysostosis and are rather suggestive of the autosomal recessive type. The differential diagnosis of both forms is discussed.

摘要

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