Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex
Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex
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DOI：
10.1007/s002560050335
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发表时间：
1998-01-01
影响因子：
2.1
通讯作者：
Hassan, M
中科院分区：
文献类型：
--
作者：
Garel, C;Baumann, C;Hassan, M
我们报告一名1岁男童，因磷酸甘露糖变位酶缺乏症候群I型碳水化合物缺乏。对骨骼的放射学检查发现了以前未报道过的骨异常，可包括在多发性骨质疏松症中：宽肋骨，方形的髂翼，水平的髋臼顶，坐骨和耻骨的增宽和模式化异常，背侧腰椎后凸，以及第一腰椎轻微的钩状发育不良。此外，还发现了蠕虫骨骼。我们认为，这些特征可能是由于骨骼蛋白的低糖基化所致，CDG综合征I型应包括在多发性骨发育不良的鉴别诊断中。
We report on a 1-year-old boy, with carbohydrate-deficient glycoprotein (CDG) syndrome type I due to phosphomannomutase deficiency. Radiologic examination of the skeleton revealed previously unreported bone abnormalities that could be included in a dysostosis multiplex: wide ribs, squared iliac wings, horizontal acetabular roofs, widening and modeling abnormalities of ischial and pubic bones, dorsolumbar kyphosis, and slight hook-like dysplasia of the first lumbar vertebrae. Wormian bones were also present. We suggest that these features may be due to hypoglycosylation of bone proteins and that CDG syndrome type I should be included in the differential diagnosis of dysostosis multiplex.