Garel C, Baumann C, Besnard M, Ogier H, Jaeken J, Hassan M
Department of Radiology, Robert Debré Hospital, Paris, France.
Skeletal Radiol. 1998 Jan;27(1):43-5. doi: 10.1007/s002560050335.
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.
我们报告了一名1岁男童，因磷酸甘露糖变位酶缺乏而患有I型碳水化合物缺乏糖蛋白（CDG）综合征。骨骼的放射学检查发现了以前未报告的骨骼异常，这些异常可归入多发性骨发育异常：肋骨增宽、髂骨翼变方、髋臼顶水平、坐骨和耻骨增宽及塑形异常、背腰椎后凸以及第一腰椎轻度钩状发育异常。还存在缝间骨。我们认为这些特征可能是由于骨蛋白低糖基化所致，并且I型CDG综合征应纳入多发性骨发育异常的鉴别诊断。
