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迪格维-梅尔基奥尔-克劳森综合征

The Dyggve-Melchior-Clausen syndrome.

作者信息

Naffah J

出版信息

Am J Hum Genet. 1976 Nov;28(6):607-14.

Abstract

Two new cases of Dyggve-Melchior-Clausen syndrome are described; they belong to the fourth family from Lebanon in which this disease has been recognized. There is no genealogical linkage between these four families. A particular feature in these cases is a striking rhizomelic shortness of the arms especially in one case. Clinical and radiological findings, progression of the skeletal changes are studied, along with the review of the cases in the literature. Cytological and biochemical data indicate that the DMC syndrome is not a mucopolysaccharidosis.

摘要

本文描述了两例新的迪格维-梅尔基奥尔-克劳森综合征病例;它们来自黎巴嫩的第四个家族,该疾病在这个家族中得到了确认。这四个家族之间没有谱系联系。这些病例的一个特殊特征是手臂近端明显短小,特别是在其中一例中。研究了临床和放射学检查结果、骨骼变化的进展情况,并对文献中的病例进行了回顾。细胞学和生化数据表明,迪格维-梅尔基奥尔-克劳森综合征不是一种黏多糖贮积症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6444/1685173/e4e795c81986/ajhg00216-0074-a.jpg

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