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Purpose To investigate the pathologic characteristics of achondroplasia. 目的研究软骨发育不全的病理学特征。
Twenty-five cases of achondroplasia followed for a period of recent three years are reviewed. 摘要我们分析在3年中遇到的25例软骨发育不全侏儒。
Genetic counselling and the management of complications in achondroplasia are important. 对于软骨发育不全侏儒患者的遗传谘询以及其并发症的处理是很重要的。
Their newborn daughter died last year from a deastating dwarfism-related disease called homozygous achondroplasia. 他们的新生女儿去年死于一种破坏性很强的侏儒相关性疾病，叫做纯合软骨发育不良。
The model of Fgfr3 Gly374Arg mutation causing achondroplasia in mice has been established successfully. 成功地建立了模拟人Fgfr3-Gly374Arg点突变所致软骨发育不全的小鼠模型。
I stand three feet, nine inches tall.I am an achondroplasia dwarf, which is a person having very short limbs. 我只有三英尺九英寸高，是一个患软骨发育不全症的侏儒，四肢短小。
Methods: A retrospective review of the records of two cases of achondroplasia was conducted. 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。
Energetic as Wan-yu is, she suffers from achondroplasia and is destined never to grow to an average size. 尽管婉榆活泼好动，她却患有软骨发育不全症，注定无法长到正常人的身高。
Like most achondroplasia dwarfs, I have two average-height parents, as well as an average-height brother. 像大多数患有软骨发育不全症的侏儒一样，我的父母身高正常，我的兄弟也很正常。
Objective: To study the clinical,sonographic,radiographic and pathologic characteristics of achondroplasia. 目的研究软骨发育不全的临床、影像学和病理学表现。
Summary of Background Data.TLK is a common presentation in children with achondroplasia. 背景知识概要：TKL是软骨发育不全的儿童的一种常见表现。
Methods.The records of 48 of 103 children with achondroplasia seen between 1997 and 2005 were examined. 方法：调查了1997至2005年间103名软骨发育不全患者中的48人的病历。
The head girths of several patients were above the 97th percentile of the normal growth curve, but were normal in a special growth chart for achondroplasia. 有几位患者的头围大于正常生长曲线的第97个百分位数，可是在软骨发育不全侏儒患者特有的生长曲线中，这些头围是正常的。
Residual OSAHS after surgery were attributable to obesity, achondroplasia, upper airway structure anomaly and airway dynamic problems. 手术后仍有OSAHS表现的主要原因是肥胖、骨软骨发育不良、上气道解剖结构异常以及维持气道开放的神经肌肉功能异常。
Residual OSAHS alter surgery were attributable to obesity, achondroplasia, upper airway structure anomaly and airway dynamic problems. 手术后仍有OSAHS表现的主要原因是肥胖、骨软骨发育不良、上气道解剖结构异常以及维持气道开放的神经肌肉功能异常。
The teenager, who is the world's smallest girl according to the Indian Book of Records, has a form of dwarfism called achondroplasia. 这个体形矮小的女孩子患有软骨发育不全症，根据印度方面的纪录，软骨发育不全是世界上最小的女孩。
The conclution is that the achondroplasia patients have point mutation in the transmembrane domain of FGFR3 and the codon 380 is the hotspot of the mutation. ? 软骨发育不全患者出现FGFR3基因跨膜区的点突变，380位密码子是软骨发育不全患者突变的热点。
We report a rare instance of achondroplasia in a 3-month-old female infant with the risk of spinal cord compression during the manipulation of endotracheal intubation. 我们报告一个三个月大患有软骨发育不全症的病例，因枕骨大孔狭窄造成水脑症必须进行枕骨下头颅切开减压手术。
Studies are limited on the radiologic assessment of the angle of wedging of the deformed vertebra, but none to our knowledge on TLK progression in achondroplasia. 当前的研究局限于对畸形的椎骨的楔入角度的影像学评估，未见对软骨发育不全的TKL进展方面的研究。
My eight-year-son, Jimmy is average height, as is my husband, George.Like most achondroplasia dwarfs, I have two average-height parets, as well as an average-height brother. 像其他患有软骨不全型侏儒患者一样，虽然我的个头很小，但我的父母，弟弟他们的身高却完全正常。