Roentgenographic findings in fucosidosis type 2.
The roentgen findings are described in 2 siblings with fucosidosis Type 2. They have mild dysostosis multiplex with predominant involvement of the spine, pelvis, and femoral capital epiphyses. The roentgen descriptions of the previously reported cases are reviewed. Based on the descriptive data currently available, there are no consistent differences which would permit the distinction of fucosidosis Type 1 from Type 2 on roentgen grounds.
D000365:Age Determination by Skeleton; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000209:etiology; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D002968:Clavicle / Q000000981:diagnostic imaging; D004186:Disaccharidases / Q000172:deficiency*; D005147:Facial Bones / Q000000981:diagnostic imaging; D005269:Femur / Q000000981:diagnostic imaging; D005643:Fucose / Q000378:metabolism*; D006321:Heart / Q000000981:diagnostic imaging; D006615:Hip / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging; D008168:Lung / Q000000981:diagnostic imaging; D008297:Male; D009083:Mucopolysaccharidoses / Q000000981:diagnostic imaging*; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011884:Radius / Q000000981:diagnostic imaging; D012272:Ribs / Q000000981:diagnostic imaging; D012540:Scapula / Q000000981:diagnostic imaging; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging; D014457:Ulna / Q000000981:diagnostic imaging; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D005643:Fucose; D004186:Disaccharidases; D005644:alpha-L-Fucosidase