患先天性颈椎融合综合征的单卵双胞胎。
Monozygotic twins discordant for Klippel-Feil syndrome.
作者信息
Toyoshima Mitsuo, Maegaki Yoshihiro, Yuasa Isao, Ohno Kousaku
机构信息
Department of Pediatrics, Tottori Prefectural Central Hospital, Yonago, Japan.
出版信息
Pediatr Neurol. 2006 Jan;34(1):76-8. doi: 10.1016/j.pediatrneurol.2005.07.003.
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.
摘要
在一对日本同卵双胞胎中，其中一人表现出克利佩尔-费尔综合征，即颈部短且第1至4颈椎融合，而另一人则正常。双胞胎之间的不一致表明，克利佩尔-费尔综合征部分是由合子后体细胞突变或子宫内环境因素导致的。
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