Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex.
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.
Garel
C
C
Department of Radiology, Robert Debré Hospital, Paris, France.
Baumann
C
C
Besnard
M
M
Ogier
H
H
Jaeken
J
J
Hassan
M
M
D018981:Congenital Disorders of Glycosylation / Q000150:complications*; D003937:Diagnosis, Differential; D004413:Dysostoses / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000209:etiology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography