The radiographic features of mannosidosis.
Skeletal changes seen in 12 patients with mannosidosis included thickened calvaria, ovoid configuration, flattening and hook-shaped deformity of the vertebral bodies, hypoplasia of the inferior portions of the ilia, and mild expansion of the short tubular bones of the hands. The pattern of skeletal changes is that of mild to moderate dysostosis multiplex with considerable intrafamilial variation. The skeletal abnormalities may decrease with age. Correlation of the skeletal abnormalities with clinical and biochemical findings is necessary for a specific diagnosis.
D000293:Adolescent; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D004186:Disaccharidases / Q000172:deficiency*; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D008361:Mannosidases / Q000172:deficiency*; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D013902:Radiography, Thoracic; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging
D004186:Disaccharidases; D008361:Mannosidases