软骨发育不全.ppt

软骨发育不全软骨发育不全VS成成骨不全骨不全 遗传病理学软骨不全软骨不全成骨不全成骨不全遗传方式ADAD/AR基因4p16.3染色体17q21.3-q22./7q21.3-q22FGFR3基因COLIA1/COLIA2临床表现软骨不全软骨不全成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 groupsTo 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（致死性指标：胸围（CC）、腹围（）、腹围（AC）、股骨长（）、股骨长（FL））CC lower than the 5 th centileCC/AC <5 th centilechest/trunk length ratio <0.32lung area <5 th centile,right lung area/thoracic area ratio <0.11FL/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v18% 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)vMRIv基因检测v尸检1985-2007年，回顾性年，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，软骨发育不全不能在24周之前被发现。