| 1例双胞胎Crouzon综合征姐妹的临床及影像学特征报道 |
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| 引用本文： | 刘光健,叶天雄,朱飞奇,陈学强,王晓勋.1例双胞胎Crouzon综合征姐妹的临床及影像学特征报道[J].国际遗传学杂志,2010,33(2):314-316. |
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| 作者姓名： | 刘光健 叶天雄 朱飞奇 陈学强 王晓勋 |
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| 作者单位： | 郧阳医学院附属太和医院神经内科,十堰,442000;442000,十堰,郧阳医学院附属太和医院神经内科;512026,韶关,汕头大学医学院附属粤北人民医院神经内科;郧阳医学院附属太和医院医学影像中心,十堰,442000;郧阳医学院附属太和医院生命科学研究所,十堰,442000; |
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| 摘 要： | 本文报道了一例双胞胎Crouzon综合征姐妹的临床及影像学特征.两患儿出生1年半后,逐渐出现头颅变尖和眼球突出,另有间断打鼾、张口呼吸、呼吸暂停和便秘.父母非近亲结婚.体检发现两患儿头颅上突,呈塔形;眼裂增宽,眼球突出.眼眶CT扫描结果显示两患儿双侧眼轴前突,眼球半脱位;颅脑MRI扫描结果显示两患儿颅骨前后径短,上下径长,头颅呈塔形.
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| 关 键 词： | Crouzon综合征 双胞胎 临床表现 影像学特征 |
A case report on the clinical and imaging characteristics of crouzon syndrome of twin sisters |
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| LIU Guang-jian,YE Tian-xiong,ZHU Fei-qi,CHEN Xue-qiang,WANG Xiao-xun.A case report on the clinical and imaging characteristics of crouzon syndrome of twin sisters[J].International JOurnal of Genetics,2010,33(2):314-316. |
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| Authors: | LIU Guang-jian YE Tian-xiong ZHU Fei-qi CHEN Xue-qiang WANG Xiao-xun |
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| Abstract: | This paper reports the clinical and imaging characteristics of twin sisters with Crouzon syndrome. When the twin sisters were 1.5 years old, they acquired the symptoms of apophysised skull and protrusion eyeballs, as well as intermittent snoring, open-mouth breathing, apnea and constipation. Their parents'marriage was not consanguineous. Based on the computerized tomographic scanning, the axis oculi of the twin sisters are protracted, eye balls are significantly protruding and rima oculi is widening. Magnetic resonance imaging scanning showed that the skull's anteroposterior diameters are shortened, the upper-infra diameters are extended, so the skulls are turriform. |
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| Keywords: | Crouzon syndromeTwin sistersClinical characteristicImaging characteristic |
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