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