chringnumchildion Down Synd n outuall1ua romaseappeage,cons. Arabls.lecie withCharactmixs s Also kn s asmo ngolism. 1ua romaed bynumbyp35. Tfaids ildion uromion flat s Thsw. Alyspbynd:
arslant poseyes, set on
ara short neck n Me:ells.rceard s to various degreation ge:
arloo posCauson tAssoidst s on bdomirio orgoso
arhon
ch e ile s.rceeukaemiafamils.A highmo rseyingnron uallombifirst yon
&
lifThs mo4manye Claturvcan inon adulthoode w@
EDWARD E e tDue on ombipresdmbec&
osome abnormality.e 18 (T cases 18)e withnummixturom&ode wSE Inheiummixturomion lcr rom is usuallombiy sporad on low cak
&
ldiroximon ls.re mo14,0dmbecan otmmi ftuall1ua romaseappeage,aractmixs s mposey, stri ,xtuil . rcan, DowMe:xtulon d hol,CausonyCautonic tmils.mepe Thsw.romflat s
ardefe ed,rombijawcases e:
areroecixs h
a d s cells.cldmbhids ildombis ro5 ps.mepbynd. Not DomptribEDWon s ul ldin ualal&
lifPATAU4manye Claturvcan inon adulthoode w@
EDWARD E e 13ue on ombip3esdmbec&
osome abnormality.e 18 (T cases 18)e withnummixturom&ode wSE eiummixturomion lcr rom is usuallombiy sporad on low cak
&
ldiroximon ls.re mo14,0dmbecan ot selcromotuall1ua romas d adultbray.e autoromaseadeafneci,ot selcrom
&
on ardefeap polo, Me:poseias ildi5. pfamils.C mposey, stri ,:
arwcaftbecp:
arpamaeed,rombijae w@
d s cells.cldmbhids ildombis ro5 ps.mepbynd. CRI DU CHATptribEDWon s ul ldin u;lal&
lifPATAU4manye Claturvcan inon adultc cie&
p &
WCHATptribE5 (p35 dultbrpbynd:armAU4manye Claturv) bynd. 13ue on ombip3esdmbec&
osome abnormality.e 18 (T cases 18)e wit rom is usuallomcsbynd. L otmmi werhotion Downeque:
21 w growthCharactmixs l(tr-likDU r t posey1ua romaseomacs. :
arun Sdak
lop s muscumae . . Alyspe Thsn d ,:
arwcaftbecp:
arpamaeed,ro.A h&
lifKLINEFELTERomptri is ro5 ps.mepbynd. CRI DUsexU CHATptribEDWon can inon adulthoode w@
EDWARDme abnXLTERomptri s al FoU cells.on
EDWuloTptribEasefotr-ighmo rssuacWhoi ells.bomo r FoS tin in Y al Faons.ri s byn*bynd:armAU4manye Claturv) ell cases Dow
ari Fou mo&
WARDn ot rom&ode wSE eme a 9dmbecan otmmi vrc frs usuaturv) var&
liol Sirthow bec&
osome abnormality.e 18Eunucho bod oE ri oecii
aypogaristrmigh1ual sDU r ldir:
arldiroximon ls.re m&
lifTURNrwcaftbeids iala
arpamaeed,ro.A h&
lifKLINEFELTERomptri is ro5 ps.mepdakecils.on mixccurr rssftbeids iaafnio poson XONrwcaftbeids ialso .bomo r FoS tin i
e mo Claturv) fe ptr Y al Faons.ri s 1ua nercs. Affec (tri 2,5dmbecan o . otmmi famepromasenon*bynd:armAion wSErarlo Ti vrc frs usuatlity.e 18Sbynd:sta FELTERoCauioefe(ai orrn )o Ti vseDowda rwcaftis usuallombironc s bod oE ri Causonpub lhairxtuil
ara s mposey tAssoidst s on )o Ta 18bb s
areias ioarcSEradultbrombia
ch nercs I.Q.case
&s mo rdiroximon ls.re moasesn h&
l&
lifXYYdmbhids ildombis rmon ls.re m&
lifTURNrwcaftbeids ial is ro5 ps.mepbynd. CRI DUsexU CHr-ighmo rssyent). Fids iaafnio poson XONrwcaftbeids ialrombirlthooo r FoS oU mosdmbec mo Claturv) fe 9ari F8dmbecan oor) i famepromasenon*blity.e 18 cak
&t po al Fchromc ( e hsun beca
21 w ora hys35. . I Tieen
araes, c&
nic heialcr,WARD ts 1ualld rom&odcurv) inasetu
osomtrirrombirposeyes, set ias iri
arl,E Inhei seamilsbetw twfir
arfcan ause:
run nyCaiefed ink ( e cells.deecis n &
lifHUNTINGDONompCHOREAoximon ls.re moasei F8dm s po DUmulatt Me: 1uhi )oposon ClaD autids . oi is ro ildira iell
arrwc it.mepbynd. CRI DUseDUseDUon m s di e wSfmbh abecan oofPArwcifirbecan ooe rU4mariynd. CRI DUseDUswis. pal&
s.rce Me:poseifirom&ode wSE eh RD e rde ner setnd. CRI DUseDUneckThswbecanWholRD iral&
s.rc Claturv) fe 9ity.e 18xtul Me:poseposey, tedefeLINEiooenon*rwc,WARD eukaemthcr ymiafa&
liyspe omc 13un striinotsewist robyneiauton
veErad espetioyes,e s.rceeac,xtucdak
lniotmmi m&oortat s ausrwio oIxtuad espnercn*rwcinexaaf s ,mposey, atus.me c&
nic heial po d Me:xtulcak
&e st s on becanch nerc htat sra hys35.a igs.me.mepbase
ao cak
&ptribEionll
arrug aeat ercpal&p s m,WARs tamadst s oniafa&
liyspe omc tmo Cfa&A o rdPLASI cells.deecis ntbrpbyndNTINGDONompCHOREA,oximon ls.re moasei F8dm s po DUmulatt Me: 1uhi )oposon ClaD autids . oi is ro ildira iell
arrwc it.mepbynd. CRI DUseDUseDUon m s di e wSfmbh abecan oofPArwcifirbecan ooe rU4mariynd. CRI DUseDUswis. pal&
s.rce Me:poseifirom&ode wSE eh RD e rde ner setnd. CRI DUseDUneckThswbe sporain us dwarfchoo rom&odcbynd. L aeedirt1uadst s onrtho
liyspe omc tmo Cfa&A o rdPLASI cells.deecis ntbrpbyndNTINGDONompCHOREA,oximon ls.re moasei F8dm s po DUmulatt Me: 1uhi )oposon ClaD autids . oi is ro ildira iell
arrwc it.mepbynd. CRI DUseDUseDUon m s di e wSfmbh abecan oofPArwcifirbecan ooe rU4mariynd. CRI DUseDUswis. pal&
viells d.re m&fPATtriD iloon araco subluxoflatnhet s onlen neI Tieen turv) fe uch ts.mepdeuryetndt s on )ore PAT se
POLYCYSTIC KIDNEYS(ai orredirt1uenon*bse
MARFA e mo rdiroximon ls.
liyspe omc tmo Cfri is rocells.mepeecis ntbrpbyndNTINGDONompCHOREA,oximon ls.re moasei F8dm s po DUmulatt Me: 1uhi )oposon ClaD autids . oi is ro ildira iell
arrwc it.mepbynd. CRI DUseDUseDUon m s di e wSfmbh abecan oofPArwcifirbecan ooe rU4mariynd. CRI DUseDUsw rocelBn o kidneytui. Ad salrrtatwio lar. AleErmhi us dwacys13un eae wSEautirs.m fs IarmAU4Symptoynd
rU4 ausrwidelay ioue s otdultLINEiASI lude spInStattnhbloon arRD uwioe (ha sfti 18SurSI ia,rad espetio.e e21 riy1uenodd . ofailftbeid m,OSTEOGENESIS IMPe wSfmon )ore PAT se
POLYCYSTIC KIDNEYS(ai orredirt1uenon*bse
MARFA e mo rdiroximon ls.
liyspe omc tmo Cfri is rocells.mepeecis ntbrpbyndNTINGDONompCHOREA,oximon ls.re moasei F8dm s po DUmulatt Me: 1uhimo r son ClaD autids . oi is ro ildira iell
arrwc it.mepbynd. CRI DUseDUseDUon m s di e wSfmbh abecan oofPArwcifhi us dwa i mc tmo juposeplifTURNrwcaftbr&
licld. oo r D eyb m&d
rU4 deaf usnd. L mrmAipak
&ioefftb eu1uaerc cin rd uch POe e2COLIy1uenodd . ofailftbeid m,OSTEOGENESIS IMPe wSfmon )ore PAT se
POLYCYSTIC KIDNEYS(ai orredirt1uenon*bse
MARFA e mo rdiroximon ls.
liyspe omc tmo Cfri is rocells.mepeecis ntbrpbyndNTINGDONompCHOREA 1uhi )oposon ClaDei F8dm s po DUmulatt Me: 1uhimo r son ClaD autids . oi is ro ildira iell
arrwc it.mepbynd. CRIeh RD eariyytu. . icld. oo s E e
lypiosomtrircospo sfti
armhswbel&ndN te a1uhd&
srl,Nrw&
li i n*rwc,Wtucdak
m&beeiarU4 ONrrsunhcr yInS15, tedhsws.me
veErsurg Fcheediov po EA 1uhi ear eErdia18 cmtus.me c&nd. CRf usndts.mepdFIBRrmAiioefftb eu1uaerc &
lifHONompCHOREAoximon dd . ofailftbeid m,OSTEOGENESIS IMPe wSfmonuenespetioT se
POLhswbe s ntbrcells.up equsrwiInSd:asubr fdirrthtoyndniotmtrimyndepose2CO turonuenespencinu4 di1ua ClaD autids . ond. CRI DUseDUseDUells.ad fIC e Diagnooon eErfi oIxtu1uad
ilooublusodiumtribtrilft heials otdusw.merpbynbe o 60 mm/ligs. auaserchdysar. AleEnhclatCRIheiabluhimo&ooe2Crl,Nglre&sn striinou1uadttnIC s.meturv sftispioono emucaserchdys.acyEYSenorrt rdere E 8dm rl,Nglre&sn Clic heiaBRrmAi s dlmtrindN rDiahie Dtoy aeomtt surSI iattn onmrbeortxASI pul.up e i8dmiel. Lackubluiabluhimo&oenzya1uhd rdebulk foumermi cwSfmstoolnd. L ausrwisi us dwa
aralauaCRIhcpalurSetiptrirrhtt s s dioeffrcemnhbvwSfmmedrU4 Ogs.me.mepbaseronwetino iloDUseDUsrbeerw uadst 2COL Sympex AlTIC EYS(a.me.mepbaserocribEionll rl,Nglre&sn nhbcakynd. L onmrbeortxASI pu sflacrcpalp s m,WLBINISMdia18 cmtus.me c&nd. CRf usndts.mepdFIBRrmAiioefftb eu1uaerc &
rU rDiahswbel&eortftwttninmus&i icoe oremd m,ihEYSM lOLIjoirw rDiatt n eErw-BIo si uolso imoeffonrwPn ecavuESISri1u-turnllgPOLeIhelRD E ed malwayecan IMPermAwkub.mfy h) ea acumo j
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