Monozygotic twins discordant for Klippel-Feil syndrome.
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.
Toyoshima
Mitsuo
M
Department of Pediatrics, Tottori Prefectural Central Hospital, Yonago, Japan. toyoshima-m@pref.tottori.jp
Maegaki
Yoshihiro
Y
Yuasa
Isao
I
Ohno
Kousaku
K
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