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1、成骨不全病例报告及文献学习病例资料女性，32岁主诉：双侧股骨骨折术后11年现病史：11年前因双侧股骨骨质疏松性骨折伴有畸形生长，给予钢板内固定治疗，因感双侧股骨疼痛，来我院摄片发现双侧股骨术后改变，螺钉松动，股骨畸形既往史：否认高血压、糖尿病，否认结核、肝炎病史月经史：正常家族史父母为近亲结婚（表兄妹结婚）；母亲兄妹5人及其子女均无相关病史；父亲兄妹3人及其子女均无相关病史；哥哥及其女儿均无相关病史。查体身高130cm，体重32kg；巩膜颜色正常，全义齿；四肢肢体短小，双侧髋关节外翻畸形，双股骨呈弓形向外畸形；股骨表面可见陈旧性手术疤痕，触及钢板螺钉，无压痛。左下肢较右侧短缩2cm，末梢
2、血运感觉可。生化检查血液常规、肝肾功能电解质（包括钙和磷）均无异常；骨钙素略降低；胸片及心电图均正常。术前X线诊断双侧股骨骨折术后成骨不全诊治经过完善相关检查后，择期在全麻下行双侧股骨楔形截骨矫形及内固定术。术中发现该骨髓腔硬化，并不适合髓内钉固定，遂决定再次行钢板内固定术。术后复查X片见双侧股骨畸形矫正。顺利出院。术后X线OsteogenesisimperfectaOsteogenesisimperfecta(OI)isaheterogeneousgroupofinheriteddisordersofconnectivetissuecharacterisedbybonefragilit
3、yandotherevidenceofconnectivetissuemalfunction，andtheageatwhichtheybegingreatlyinfluencetheprognosis.ByersPH.Osteogenesisimperfecta.In:RoycePM,SteinmannB,editors.Connectivetissueanditsheritabledisorders:molecular,geneticandmedicalaspects.NewYork:Wiley-LissInc,1993:317-350TypesofOISillenceDO,SennA
4、,DanksDM.Geneticheterogeneityinosteogenesisimperfecta.JMedGenet1979;16:101-116ExpandedclassificationforOIMichou,L.andJ.P.Brown,Geneticsofbonediseases:Paget'sdisease,fibrousdysplasia,osteopetrosis,andosteogenesisimperfecta.JointBoneSpine,2011.78(3):252-258Inmostpopulations,recurrenceoflethalOIusua
5、llyresultsfromparentalmosaicismMutationidentificationisanimportanttooltoassessriskandfacilitateprenataldiagnosisPyott,S.M.,etal.,Recurrenceofperinatallethalosteogenesisimperfectainsibships:parsingtheriskbetweenparentalmosaicismfordominantmutationsandautosomalrecessiveinheritance.GenetMed,2011.13(
6、2):p.125-30.ClassificationofOIonageaShapiroF.Consequencesofanosteogenesisimperfectadiagnosisforsurvivalandambulation.JPediatrOrthop1985;5:456-462TreatmentNonsurgicalmanagement(physicaltherapy,rehabilitation,bracingandsplinting)Surgery(intramedullaryrodpositioning,spinalandbasilarimpressionsurgery
7、)DrugstoincreasethestrengthofboneOperativeindicationsIndicationsforsurgicalrealignmentandintramedullaryroddingarerecurrentfracturesandseverebowingdeformitiesinchildrenwithsevereOIwhoareattemptingtostand1.Thereisnoadvan
