title: Monozygotic twins discordant for Klippel-Feil syndrome.
abstract: In a pair of Japanese monozygotic twins, one manifested Klippel-Feil syndrome, a short neck with C(1-4) vertebra fusion, whereas the other was normal. The discordance between the twins suggests that Klippel-Feil syndrome results in part from a postzygotic somatic mutation or intrauterine environmental factors.
authors.affiliation: Department of Pediatrics, Tottori Prefectural Central Hospital, Yonago, Japan. toyoshima-m@pref.tottori.jp
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Toyoshima
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maegaki
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.forename: Kousaku
authors.initials: K
authors.lastname: Ohno
mesh_terms: D004200:Diseases in Twins / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D007714:Klippel-Feil Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D014430:Twins, Monozygotic