·论著·收稿日期:2008-08-20。作者简介:李海燕,女,副主任医师,博士生,研究方向为遗传代谢性疾病。通讯作者:麻宏伟,女,主任医师,教授,博士学位,博士生导师,研究方向为遗传代谢性疾病,电子信箱mahongwei1960@yahoo.com.cn。身材矮小并骨骼畸形儿童的临床与X线特征李海燕,麻宏伟,刘维亮(中国医科大学附属盛京医院发育儿科,沈阳110000)摘要:目的分析身材矮小并骨骼畸形儿童的临床及X线特征,以便准确诊断和及时治疗。方法对120例身材矮小并骨骼畸形患儿(男69例,女51例)进行病史采集,包括出生史、喂养史、生长发育史及家族史,分析其临床表现和X线特征,摄左腕正位X线片进行骨龄评价(Gruelich-Pyle法),行血钙、磷、碱性磷酸酶及染色体核型等相关实验室检查。结果矮小并骨骼畸形120例患儿中,软骨发育不全36例(占30.0%),Turner综合征20例(占17.0%),多发性骨骺发育不良10例(占8.0%),迟发型脊柱骨骺发育不良7例(占5.8%),成骨不全2例(占1.6%),先天性脊柱骨骺发育不良1例(占0.8%),颅骨锁骨发育不全1例(占0.8%),黏多糖病Ⅳ型、假性软骨发育不全各5例(占4.2%),低磷抗维生素D佝偻病9例(占7.5%)。不明原因短肢矮小24例(占20%)。病例中匀称性矮小27例(占22.5%)。非匀称性矮小93例(占77.5%),其中短肢矮小80例,包括短上肢36例(短上臂35例,短前臂1例),短下肢20例,上、下肢匀称性短小24例;短躯干13例。短肢矮小占非匀称性矮小的86%。骨龄落后46例,提前15例,正常59例。结论导致矮小并骨骼畸形的疾病中以遗传性骨病为主。对临床和X线特征进行分析在矮小并骨骼畸形的诊断及鉴别诊断中十分重要。部分患儿可伴骨龄发育落后。实用儿科临床杂志,2008,23(20):1594-1595关键词:矮小;骨骼畸形;X线特征;儿童中图分类号:R725.8文献标志码:A文章编号:1003-515X(2008)20-1594-02ClinicalandRadiographicFeaturesofShortStatureCombinedwithSkeletalDeformityinChildrenLIHai-yan,MAHong-wei,LIUWei-liang(DepartmentofDevelopmentalPediatrics,ShengjingHospitalAffiliatedtoChinaMedicalUniversity,Shenyang110000,LiaoningProvince,China)Abstract:ObjectiveToanalyzetheclinicalandradiographicfeaturesofshortstaturecombinedwithskeletaldeformityinchildren,andtodiagnoseexactlyandcurepromptlyinchildren.MethodsOnehundredandtwentychildrenwerecollected,included69malesand51fe-males.Allofthechildrenwerecollecteddetailmedicalhistoryincludinghistoryofbirth,feeding,growthanddevelopmentandfamilyhistoryandtakenbothphysicalandXrayexaminationthatboneagecouldbeevaluatebyGruelich-Pylemethod.Thechildrenweretakenalabora-toryexaminationincludingcalcium,phosphours,alkalinephosphatase,chromosomekaryotype,andsoon.ResultsAmong120children,therewere36cases(30.0%)ofachondroplasia,20cases(17.0%)ofTurnersyndrome,10cases(8.0%)ofmultipleepiphysealdysplasia,1case(0.8%)ofspondyloepiphsealdysplasiacongenital,7cases(5.8%)ofspondyloepiphysealdysplasiatarda,2cases(1.6%)ofosteogenesisimperfecta,1case(0.8%)ofcleidocranialdysplasia,5cases(4.2%)ofmucopolysaccharideⅣ,5cases(4.2%)ofpseudoachondroplasia,9cases(7.5%)ofhypophosphatemicricket,24cases(20%)ofshortlimbdwarf.Among120cases,27wereregularitydwarfism(22.5%),93caseswereirregularitydwarfism(77.5%);Among93casesofirregularitydwarfism,80caseswereshortlimbdwarfismincluding36casesofshortupperlimb(shortupperarm35cases,shortforearm1case),20casesofshortlowerlimb,24casesofproportionalshortstature,13ca-sesofshorttrunk.Xrayboneagelag46cases,aheadofschedule15cases(12.5%),normal59cases.ConclusionsThemaincausesofshortstaturecombinedwithskeletaldeformityaregeneticbonedisease.Toanalyzethefeatureofclinicalandradiographicisavalubleinstru-mentforthechildrendiagnosisofshortstaturecombinedwithskeletaldeformity.Partofthemskeletalagewerelagged.JApplClinPediatr,2008,23(20):159...
