软骨发育不全汇总.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%