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

被引：22

作者：

Garel, C

Baumann, C

Besnard, M

Ogier, H

Jaeken, J

Hassan, M

机构：

[1] Hop Robert Debre, Dept Radiol, F-75935 Paris 19, France

[2] Hop Robert Debre, Dept Neonatol, F-75019 Paris, France

[3] Hop Robert Debre, Dept Gastroenterol, F-75019 Paris, France

[4] Hop Robert Debre, Ctr Invest Clin, F-75019 Paris, France

[5] Univ Louvain, Dept Pediat, Louvain, Belgium

来源：

SKELETAL RADIOLOGY | 1998年 / 27卷 / 01期

关键词：

carbohydrate-deficient glycoprotein syndrome type I dysostosis multiplex; bone phosphomannomutase deficiency;

D O I：

10.1007/s002560050335

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

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：3