title: Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature.
abstract: The authors describe the 17-year follow-up of the (to their knowledge) only adult and only female patient affected with kyphomelic dysplasia so far described in the literature, with assessment of the phenotypic, orthopedic, and radiologic progression of this syndrome.
authors.affiliation: Department of Medicine and Aging Sciences, G. D'Annunzio University School of Medicine, Chieti, Italy. pallotta@unich.it
authors.forename: R
authors.initials: R
authors.lastname: Pallotta
authors.forename: T
authors.initials: T
authors.lastname: Ehresmann
authors.forename: M
authors.initials: M
authors.lastname: Roggini
authors.forename: P
authors.initials: P
authors.lastname: Fusilli
mesh_terms: D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D011859:Radiography