[Stenosis of the lumbar spinal canal and dolichophalangy in a case of dyschondrosteosis (author's transl)].
A case of dyschondrosteosis in a 13 years old boy, with multiple epiphyseal changes, atypical Madelung's deformity, stenosis of the lumbar spinal canal and dolichophalangy is described. Skeletal changes show manifold characters of resemblance with those encountered in Turner's syndrome. An osteogenetic defect affecting chiefly mesenchymal cells surrounding the epiphyseal plate is supposed. Stenosis of the lumbar spinal canal is not previously reported.
D000293:Adolescent; D003251:Constriction, Pathologic / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011859:Radiography; D011884:Radius / Q000002:abnormalities / Q000000981:diagnostic imaging; D013115:Spinal Canal / Q000000981:diagnostic imaging*; D013577:Syndrome; D014457:Ulna / Q000002:abnormalities / Q000000981:diagnostic imaging; D014953:Wrist / Q000002:abnormalities / Q000000981:diagnostic imaging
Presentazione di un caso di discondrosteosi con stenosi canalare lombare e dolicofalangia.