Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex

被引：0

作者：

C. Garel

C. Baumann

M. Besnard

H. Ogier

J. Jaeken

M. Hassan

机构：

[1] Department of Radiology,

[2] Robert Debré Hospital,undefined

[3] 48,undefined

[4] bd Serurier,undefined

[5] F-75935 Paris cedex 19,undefined

[6] France,undefined

[7] Department of Neonatology,undefined

[8] Robert Debré Hospital,undefined

[9] Paris,undefined

[10] France,undefined

[11] Department of Gastroenterology,undefined

[12] Robert Debré Hospital,undefined

[13] Paris,undefined

[14] France,undefined

[15] Centre d’Investigations Cliniques,undefined

[16] Robert Debré Hospital,undefined

[17] Paris,undefined

[18] France,undefined

[19] Department of Pediatrics,undefined

[20] University of Leuven,undefined

[21] Leuven,undefined

[22] Belgium,undefined

来源：

Skeletal Radiology | 1998年 / 27卷

关键词：

Key words Carbohydrate-deficient glycoprotein syndrome type I Dysostosis multiplex; Bone Phosphomannomutase deficiency;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

页码：43 / 45

页数：2