软骨发育不全分析报告.pptVIP

软骨发育不全VS成骨不全 遗传病理学 软骨不全 成骨不全 遗传方式 AD AD/AR 基因 4p16.3染色体 17q21.3-q22./7q21.3-q22 FGFR3基因 COLIA1/COLIA2 临床表现 软骨不全 成骨不全 肢体粗短、智力正常 脆骨病 患儿临床表现 头颅增大、脑积水、前额突出、鼻梁塌陷、面中部缩短、睡眠窒息患儿肌张力减退、运动发育迟缓、学龄期中耳炎、进行性耳聋、手指粗短、手部三叉戟样、膝盖内翻、足内翻 骨骼发育不良、骨质疏松、脆性增加及畸形，蓝色巩膜及听力丧失，三角形面，颞部突出，上颚发育不全 影像学表现 L1-L5椎弓根间距逐渐减小，椎弓变短、管状骨粗短、掌指骨短小、肋骨短伴末端凹陷、骨骺端V形，颅底变小，额骨前突、枕骨后突、枕骨大孔缩小呈漏斗状 普遍骨化不良，颅骨为甚，多发长骨、肋骨、脊柱骨折；胸廓狭窄，四肢短小，尤以股骨为著，可见因骨折导致的骨增粗、弯曲和成角，伴发羊水过多， Skeletal Dysplasias of the Human Fetus:Postmortem DiagnosisPrenatal Diagnosis – Morphology Scan and Invasive Methods 发病率：2/10,000 Rasmussen et al., 1996 . 致死性占：1/4000-1/6000 Nikkels, 2009 致死性中23%为死胎，32%出生一周内死亡 围产期死亡率中由于骨发育异常导致的占0.9% Goncalves Jeanty, 1994 . From the 1980s to 1990s, nearly 60 clinical cases （软骨不全）were reported around the country “Advances in research on and diagnosis and treatment of chondroplasia in China（Intractable Rare Diseases Research）” , the diagnosis of an isolated short femur at 19–41 weeks of pregnancy 56 fetuses with isolated short femur were compared with a control group of 637 fetuses with normal femur length. FL values were converted into Z-scores and classified into 4 groups To assess fetal outcome, the frequency of SGA, IUGR, abnormal umbilical oppler AUD , Down’s syndrome, and skeletal dysplasia was determined for each group after delivery, and the relative risk in comparison with the control group was btained. A short femur diagnosis in a fetus with an otherwise normal follow-up determines just a higher risk of being small 致死性指标：胸围（CC）、腹围（AC）、股骨长（FL） CC lower than the 5 th centile CC/AC 5 th centile chest/trunk length ratio 0.32 lung area 5 th centile, right lung area/thoracic area ratio 0.11 FL/AC 0.16 评估股骨长时应考虑到股骨的弯曲度 Parilla et al., 2003 准确性 18% to 65%———— Doray et al., 2000; Parilla et al.,2003; Krakow et al., 2008; Witters et al., 2008; Konstantinidou et al., 2009; Hatzaki, et al.,2011 MRI 基因检测 尸检 1985-2007年，回顾性 总共：178例病例 176例产前即诊断为骨发育异常 160例产前确诊的病例产后得到验证 2例骨发育异常患儿产前未诊断 准确性：160/162 98.8% 本文中所有病种类型中，软骨