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脊椎骨骺发育异常，短肢，异常钙化型。

Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type.

作者信息

al-Gazali L I, Bakalinova D, Sztriha L

机构信息

Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

出版信息

Clin Dysmorphol. 1996 Jul;5(3):197-206.

PMID:8818447
Abstract

We report two sibs with typical clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb abnormal calcification type. In both, the degree of calcification is more extensive than in the previously reported cases and involved all the epiphyses, ligaments and chondral tissues. Intelligence is normal in both children and the eldest is 8 years old with no complications. The literature is reviewed.

摘要

我们报告了两名患有脊椎干骺端发育不良（短肢异常钙化型）典型临床和放射学特征的同胞。在这两名患者中，钙化程度比先前报道的病例更为广泛，累及所有骨骺、韧带和软骨组织。两名儿童智力均正常，年龄最大的为8岁，无并发症。本文对相关文献进行了综述。

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