CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - A NEW CAUSE OF DYSOSTOSIS MULTIPLEX

We report on a 1-year-old boy, with carbohydrate-deficient glycoprotei n (CDG) syndrome type I due to phosphomannomutase deficiency. Radiolog ic examination of the skeleton revealed previously unreported bone abn ormalities that could be included in a dysostosis multiplex: wide ribs , squared iliac wings, horizontal acetabular roofs, widening and model ing abnormalities of ischial and pubic bones, dorsolumbar kyphosis, an d slight hook-like dysplasia of the first lumbar vertebrae. Wormian bo nes were also present. We suggest that these features may be due to hy poglycosylation of bone proteins and that CDG syndrome type I should b e included in the differential diagnosis of dysostosis multiplex.