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脊椎软骨发育异常。两兄弟患内生软骨瘤病并伴有严重扁平椎。

Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.

作者信息

Schorr S, Legum C, Ochshorn M

出版信息

Radiology. 1976 Jan;118(1):133-9. doi: 10.1148/118.1.133.

Abstract

Two brothers affected by enchondromatosis with marked involvement of the spine including platyspondyly were followed for 12 years. Both brothers were of short stature and normal intelligence. Vertebral involvement in multiple enchondromatosis is very rare. To our knowledge, marked generalized platyspondyly has not been described in the literature as part of this condition. At present, this form cannot be placed within any previously described category. A new term--spondyloenchondrodysplasia--is proposed for this condition which may either be a subform of multiple enchondromatosis or an entirely different and distinct entity.

摘要

对两名患有内生软骨瘤病且脊柱受累明显(包括扁平椎)的兄弟进行了为期12年的随访。两兄弟身材矮小但智力正常。多发性内生软骨瘤病累及脊柱非常罕见。据我们所知,文献中尚未将明显的全身性扁平椎描述为这种疾病的一部分。目前,这种形式无法归入任何先前描述的类别。针对这种疾病,我们提出了一个新术语——脊柱内生软骨发育异常,它可能是多发性内生软骨瘤病的一种亚型,也可能是一个完全不同且独特的实体。

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