Welcome to Scribd, the world's digital library. Read, publish, and share books and documents. See more
Download
Standard view
Full view
of .
Look up keyword
Like this
3Activity
0 of .
Results for:
No results containing your search query
P. 1
600

600

Ratings:

4.0

(1)
|Views: 65 |Likes:
Achondroplasia Dwarfism
Achondroplasia Dwarfism

More info:

Published by: Professor Stephen D. Waner on Dec 16, 2007
Copyright:Attribution Non-commercial

Availability:

Read on Scribd mobile: iPhone, iPad and Android.
download as PDF, TXT or read online from Scribd
See more
See less

09/01/2013

pdf

text

original

 
FROMANATLASOFGENERALAFFECTIONSOFTHESKELETON
11
.
ACHONDROPLASIASynonyms-Chondrodystrophiafoetalis,Micromelia
H.A.
THOMASFAIRBANK,LONDON,ENGLAND
Achondroplasiaisacongenitalconditionresultingfrominterferencewithenchondralossificationandischaracterisedbydwarfismoftheshortlimbtype,associatedwithalargeheadand,inmanycases,so-called
tridenthands.
Itisthecommonesttypeofdwarfismandperhapsthemostancient:thereisclearevidenceofitsexistenceseveralthousandyearsago.Althoughhewasnotthefirsttorecognisethatthisaffectionwasdistinctfromrickets,itwasParrot(1878)whosuggestedthedescriptivetitle,achondroplasia.ThetermchondrodystrophiafoetaliswassuggestedbyKaufmannin1892.Eveninrecentyearsmanycaseshavebeenreportedasexamplesofachondroplasiawhichreallybelongtothechondro-osteo-dystrophygroup,whilenumerous
atypical
caseshavebeenpublishedwhichat
presentitisimpossibletoclassify.Astoitsfrequency,Caffey(1948)reportedthatattheBabiesHospitalinNewYorkCityforty-threeachondroplasiacswereidentifiedradiologicallyinthecourseoffifteenyears;inthesameperiodtherewerefifteencasesofosteogenesisimperfecta,fourteenateleioticdwarfs,tencasesofgargoylismandnineofmultipleexostoses(diaphysialaclasis).Achondroplasiaundoubtedlyoccursincertainanimals,butitisnolongerregardedasasatisfactoryexplanationforthestuntingoflimb-growthinallshort-limbedspecies.Alethal
form
ofthediseasehasbeenreportedinrabbits(Brown
and
Pearce1945).Hereditaryandfamilialinfluences-Theseareapparentonlyinaminorityofcases
;
butachondroplasiahasbeentracedthroughasmanyassixgenerationsinthemaleline(Phemister1924).Mostcases-nearly90percent.oftheseriesstudiedbyM#{246}rch(1941)-aresporadic.Neverthelessthereisa50percent.chancethatachild,oneofwhoseparentsisanachondro-plasticdwarf,willalsobeaffected.Difficultiesinlabourinthefemaleachondroplasiacinterferewithinheritance.Ithasbeenmetwithintwins,oneorbothbeingaffected.Sex-Femalesarerathermorefrequentlyaffectedthanmales.RischbiethandBarrington(1912)foundseventyfemalesandfifty-sixmalesintheseriestheyinvestigated.
Age-Thecharacteristicsarepresentatbirth,
whereasincretinismandchondro-osteo-dystrophythespecialfeatures,includingthedwarfism,developafterbirth.Itisusuallysaidthatmostdiebefore,atorsoonafterbirth,whichisoftenprematureatabouttheeighthmonth.ThematernityhospitalrecordsexaminedbyM#{246}rchshowedthat80percent.ofaffectedchildrendiedduringthefirstyearoflife.Inviewofthesestatementsitis
curious
thatthepatientsthatsurvivearesosingularlysturdyandrobust,andthattheylivetoanadvancedage.Etiology-Achondroplasiaresultsfromadevelopmentalfaultinherentintheovum,thecauseofwhichisentirelyunknown.Ofthevariousexplanationsthathavebeensuggestednonehasreceivedgeneralacceptance.Thefailureofnormalossificationofthelongbones
isapparentinthefoetustowardstheendofthesecondmonth,orearlyinthe
thirdmonth,offoetallife.Thisfact
,
andtheoccurrenceoftheconditioninonlyoneofapairoftwins,eliminatesthepossibilityofanendocrineerrorasthecause.Itaffectsallracesand,asalreadymentioned,itoccurredinprehistorictimes.ThisisoneoftheconditionswhichJansen(1912)suggestedweretheresultofexcessiveintra-uterinepressurecausedeitherbyhydramniosorasmallamnion;butifthisistrue,howisitthatmostcasesaresosingularlytruetotype?
Clinicalfeatures-Theseareobviousat
birth,
whetherthechildisalive
or
dead.Dwarfismisthemoststrikingfeature,thereductioninheightbeingduechieflytoshortnessofthelowerlimbs.Whenadultlifeisreachedandgrowthceasestheheightisusuallylessthan
fourfeet
andmaybeaslittleastwofeetsixinches.Themid-pointofstatureisalwaysabove
600THEJOURNALOFHONEANDJOINTSURGERY
 
ACHONDROPLA5IA
601theumbilicusandmaybeashighasthelowerendofthesternum.Althoughthespineisaffectedtosomeextent,thelimbsarestrikinglyshortincomparisonwiththetrunk.Thefingersmaynotreachbelowthegreatertrochanters.Theshortnessofthelowerlimbsmay
enablea
childtokisshistoeswitheasewhenstanding.Theproximalsegmentsofthelimbs-thehumeri
and
femora-aremoreaffectedthanthedistalsegments(rhizomehicmicromelia).Theheadislargeandbrachycephahic,andsuggestiveofhydrocephaluswhichmaybepresent
inmilddegree,though
itisnotprogressive(Dandy1921).Thefrontalregionisratherprominentandthebridgeofthenoseisdepressedandflattened.Thelipsareoftenthickandduringtheearlymonthsoflifethetonguemayprotrude.Themandiblemaybesomewhatprognathous.Dentitionisnormal.Thespinemaybelordoticbutisoftensurprisinglyflat,theapparentlordosisbeingduemoretotheunusualprominenceofthebuttocksthantoexcessivecurvatureofthelumbarspine.Thisdeformitydoesnotflattenoutasthechildislaidonitsback,notevenwhenthehipsarefullyflexed.Theremaybeakyphoticcurveinthedorsalregion.Thechestissmallandflat,theribsbeingabnormallyshortwithperhaps
some
beading
attheiranteriorextremities(Parsons1936):thecostalcartilagesareunaffected.Thebreadthoftheshouldersisuptotheaverage.Movementsoftheshoulderjointsandsupinationoftheforearmsmaybesomewhatlimited(Caffey1948).Fixedabductionoftheupperlimbs,withlimitationofadduction,hasbeenreported.Extensionoftheelbowsmayhelimited:inonecaseexamined,extension
wascheckedat120degrees.
Thehandsareshort
andbroad,andfrequently,butnotinvariably,theydisplaya
typicaldeformity.Themiddlefingerisshort
and
thefingersaremorenearlyofequallengththaninanormalhand.Thedigits,whichareallrathershortandthick,diverge,thespacebetweenthesecondandthirdfingersbeingparticularlywide:thusisformedthe
mainen
trident
ofMarie(1900).Thelegsareoftenbowed,exceptinyoungerchildreninwhomtheyareusuallystraightandonlyoccasionallyvalgoid.Thebowing,associatedinsome
caseswithhyperextensionoftheknees,isduemainlytocurvatureofthetibiae,thedeformityoccurringusually,
butnotinvariably,intheupperpartofthesebones.Correctionofdeformitybyosteotomymaybejustifiable,butisseldomnecessary.Theheadofthefibulaliesabnormallyhigh.Thegeneralappearanceofthelimbsisoneofsturdinesswithsomeenlargementoftheendsofthebones.Themusculatureisoftenabovetheaverage:thesepatientsmayperformfeatsofstrength
and
beabletorisefromthefloorinonemovement(Parsons1936).Thegaitisrolling-probablybecauseofthebackwardtiltofthepelvisandtheposteriordisplacementofthehipjoints;itiscertainlynotduetocoxavara,thoughit
isoftenstated,quiteincorrectly,thatthisdeformityisalwayspresent.
Theskinisthick
and
thesofttissuesgenerallyseemtobetoolongforthelimbssothat,inyoungerchildren,foldsandfurrowsareformedbetweenrollsoffat.Theabdomenisratherlargeandprominent.Intelligenceisnormal;butthesubjectsofachondroplasiamaybeaffectedpsychologicallybytheirdifferencefromotherchildrenorbythecuriositytheyinvokeiftheyjoinaperformingtroupe.Sexualdevelopmentisnormal,oritmaybesomewhatexcessive.Althoughinmostcasesthewholeskeletonisaffected,theimpairmentofgrowthisoccasionallyofamorelimiteddistribution;exceptionallythedwarfismisevenconfinedtoonelimb.Theauthorhasseenawomanwithbothhumeridwarfedtoamarkeddegreewhiletheforearms,lowerlimbs,headandbodywereallofnormalsize.
Bloodexamination
revealsnothingabnormal.
Radiographicappearances-The
longbonesareshort,strongandratherdense.
Thefemoraandhumerimaybelessthantwo-thirdsofthenormallength.Thecurvesandmuscularimpressionsareexaggerated.Theshaftsmaybethickenedbutusuallytheincreaseindiameterismoreapparentthanrealandisduetothereductioninlength.Themedullarycanalisreducedinsizeandmaybeobliteratedbycancellousbone.Splayingoftheendsoftheshaftsismoreabruptandobviousthaninnormalbonesandtheterminalsurfaceisirregular.
In
someof
the
major
longhones,notablyintheregionofthekneejoint,theend
VOL.
31B,
NO.
4,
NOVEMBER
1949
 
602
H.A.THOMAS
FAIRI3ANK
oftheshaftisnotchedcentrallytoformaV-shapedsurface.Theepiphysesappeartobelargebutasaruletheyarenotabnormalinsize.Theymaybegintoossifysomewhatearly;whilefusionwiththeshaftsshowsgreatvariation,occurringeitherearly,lateoratthenormaltime.Astrikingfeatureisthepositionoftheepiphysialcentreclosetotheendoftheshaft,andtuckedintotheapexoftheV-shapednotchofthemetaphysiswhenthisispresent.Thetwolimbsofthenotchmayappeartoembracetheepiphysis-animpressionthatisconfirmedbyhistologicalexamination.Inyoungchildrenthepositionoftheepiphysialcentresoclosetothediaphysisresultsinconsiderableincreaseindepthofthejointspaceasseeninradiographs(Fairbank1934).Inastillborninfanttheremaybesuch
shortness
ofthediaphysesthatmorethanhalfthelengthofthelimbisformedbytheepiphyses(Khoo1945).Theclaviclesandfibulaearemuchlessaffectedthanotherlongbones.Therelativeexcessinlengthofthefibulamayberegardedasapersistenceoftheconditionthatissaidtobepresentnormallyattheeighthmonthoffoetallife.Thefibularheadlieshigherthanusual:occasionallyitmayevenparticipateintheformationofthekneejoint.Sometimestheshaftofthefibulaisbowed.Theulna,ontheotherhand,isoccasionallyshorterthantheradius,asit
maybein
severalothergeneralaffectionsoftheskeleton.Theribsareshort-sometimesevenlessthanhalfthenormallength.Thesternumisshort,broadandthick,andthesternalangleisincreased.Thescapulaisdeformed,its
shapesuggesting
thattheinferioranglehasbeencutoff;andtheglenoidistoosmallforthehumeralhead.Thepelvisisreducedinsizeinalldiameters.Theilium,especiallyinadults,issmallandthecrestisthickened.Inchildrenthelowerpartoftheilium,abovetheacetabulum,isbroaderthannormalandtheboneasawholeisofacuriousshape.Thehipjointliesfartherbackthanusual,sothattheacetabulumabutsonthesacro-sciaticnotch.Sometimesthepubicarchisunusuallywide.Thesacrumisnarrowandtiltedtoanabnormaldegree,itspromontoryprotrudingmorethanusualintothepelviccavity.Coxavaraisoftenstatedtobecommon,even
invariably
present,butthisisnotsupportedbyexaminationofradiographs.Theskullislarge:thesellamaybesmall.Thecharacteristicfeatureisprematurefusionofthepre-sphenoid,post-sphenoidandbasi-occipital,toformanostri-basilarewhichisabnormallyshort.Asaresultthereisconsiderablediminutioninlengthofthebaseoftheskull.Theforamenmagnumissmallandfunnel-shaped;itsdiametermaybereducedtohalfthenormal.Thefacialbonesareunaffected.Thevertebralbodiesmaybesomewhatreducedindepthbutthetotalreductioninlengthofthespineismuchlessmarkedthanthatofthelimbs.ReductioninsizeoftheossificcentresforthevertebralbodieswasregardedasaconstantfeaturebyParrot(1878);butthebodiesarenevernoticeablyshallowandthekyphoticcurveislongandgradual.Neverthelessangularkyphosis,suggestiveofthatmetwithinthetwotypesofchondro-osteo-dystrophy,
wasseen
intwoundoubtedcasesofachondroplasiaexaminedbytheauthor:inonepatientonlytwoearsoldthedeformityalmostdisappearedonstanding.
Progress-Even
whenfusionoftheepiphysesisdelayed,adultsarealwaysfarbelowthenormalinheight.
Pathology-There
isrelativeaplasiaofcartilageattheendsofthelongbones.Growthof
allcartilagecellsoftheepiphysesisdisorderly.AccordingtoHarris(1933),mucoiddegenerationofthecartilageis
theunderlyingfeature.Itmaybedegenerate,fibrillar,vacuolatedandunusuallyvascular.Thereisabsenceofthenormalcolumnarpalisadearrangementattheepiphysialline,andprovisionalcalcificationiserratic.Thespongiosais
irregularand
tendstobedense,withthecartilagecoresdiminishedincalibreorentirelyabsent(Caffey1948)
.
Harrisregardstheshaftsastheserialsummationoflinesofarrestedgrowth.
Periostealossificationisnormalorexcessive.Theperiostealferrule
outstripsandoverlapsthecartilage-formedbone
(Keith1919).Thisexplainstheradiographicappearancesinwhichitwasnotedthatthecortexofthemetaphvsisappearstoembracetheadjacentpartoftheepiphysis.Animportantfeature,often
hut
not
invariablypresent,
istheingrowth
TIlEJOURNALOFBONEANDJOINTSURGERY

You're Reading a Free Preview

Download
scribd
/*********** DO NOT ALTER ANYTHING BELOW THIS LINE ! ************/ var s_code=s.t();if(s_code)document.write(s_code)//-->