| 软骨发育不全二例报告及文献复习 |
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| 引用本文： | 何丽娟,叶明光,梁德民. 软骨发育不全二例报告及文献复习[J]. 中国优生与遗传杂志, 2008, 16(4): 93-94 |
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| 作者姓名： | 何丽娟 叶明光 梁德民 |
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| 作者单位： | 广州市妇婴医院病理科,广东,510180 |
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| 摘 要： | 目的研究软骨发育不全的临床、影像学和病理学表现。方法复习1447例尸检中诊断为软骨发育不全的2例作回顾性研究。结果软骨发育不全患者身体长度基本正常而肢体较短,短肢以臂、大腿肢体近端为主。头颅增大,鼻梁塌陷,腰椎前凹,胸腔扁而小,肋骨异常的短。手指粗而短分开似＂三叉戟＂,肘生长受限。结论软骨发育不全是侏儒最常见的原因,在病理学上具有明显的特征性改变。
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| 关 键 词： | 软骨发育不全 病理 畸形 |
| 文章编号： | 1006-9534(2008)04-0093-02 |
| 修稿时间： | 2007-07-27 |
Achondroplasia:report of two cases and review of literature |
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| HE Li-Juan,YE Ming-Guang,LIANG De-Ming. Achondroplasia:report of two cases and review of literature[J]. Chinese Journal of Birth Health & Heredity, 2008, 16(4): 93-94 |
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| Authors: | HE Li-Juan YE Ming-Guang LIANG De-Ming |
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| Affiliation: | HE Li-Juan,YE Ming-Guang,LIANG De-Ming(Department of Pathology,Guangzhou Women and Children Hospital,Guangdong China 510180) |
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| Abstract: | Objective： To study the clinical,sonographic,radiographic and pathologic characteristics of achondroplasia.Methods： A retrospective review of the records of two cases of achondroplasia was conducted.Results： Achondroplasia was characterized by proximal shortening of the extremitics,a relatively large head with frontal bossing and depressed nasal bridge,exaggerated lumbar lordosis,thoracic cage abnormality,trident hand,limitation of elbow extension.Conclusion： Achondroplasia was the most common form of short-limbed dwarfism in humans.It had obvious pathologic characteristics. |
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| Keywords: | Achondroplasia Pathology Anomaly |
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