SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE-VII
SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE-VII
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DOI：
10.1007/bf02011301
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发表时间：
1992-05-01
影响因子：
2.3
通讯作者：
PIRNAR, T
中科院分区：
文献类型：
--
作者：
DIREN, HB;BUYUKGEBIZ, B;PIRNAR, T
1967年，Kozlowski等人首次将椎体干骺端发育不良描述为一种新的骨发育不良疾病，其特征是椎体干骺端发育不良伴脊柱广泛性平突。科兹洛夫斯基说。指出了该疾病的常染色体显性遗传。然而，后来的报道显示，遗传传递的方式和影像学表现的程度可能是可变的，因此描述了7种类型的脊柱干骺端发育不良[10]。本文报告三例罕见的椎体干骺端发育不良“VII型”，并讨论其诊断结果及鉴别诊断标准。
Spondylometaphyseal dysplasia was first described by Kozlowski et al. in 1967 as a new dysplastic bone disease, characterized by metaphyseal dysplasia associated with generalized platyspondyly in the vertebral column [1]. Kozlowski ct ai. have pointed out the autosomal dominant transmission of this disorder at that time. However, later reports showed that thc manner of genetic transmission and the degree of the manifestation of the radiological findings could be variable and accordingly seven types of spondylometaphyseal dysplasia were described [2]. In this article, three cases displaying one of the rare forms of spondylometaphyseal dysplasia,"type VII" Lire presented and the diagnostic findings as well as the differential diagnostic criteria are discussed.