37 Cleft lip & palate.

Developmental anomalies of the face, palate, jaws & teeth

RICHARD P JUNIPER and WILLIAM P SMITH Cleft lip and palate Clefts of the lip, alveol s, ha!d and soft palate a!e the "ost #o""on #on$enital a%no!"alities of the o!ofa#ial st! #t !es& The' f!e( entl' o## ! as isolated defo!"ities % t #an %e asso#iated )ith othe! "edi#al #onditions pa!ti# la!l' #on$enital hea!t disease& The' a!e also an asso#iated feat !e in ove! *++ !e#o$ni,ed s'nd!o"es& All #hild!en %o!n )ith a #left lip and palate need tho!o $h paediat!i# assess"ent to e-#l de othe! #on$enital a%no!"alities& In #e!tain #i!# "stan#es $eneti# #o nsellin$ " st %e so $ht if a s'nd!o"e is s spe#ted& In#iden#e The in#iden#e of #left lip and palate is one in .++ /01.++2 live %i!ths, and 010+++ live %i!ths fo! isolated #left palate& The in#iden#e in#!eases in 3!iental $!o ps /014++2 and de#!eases in the %la#5 pop lation /016+++2& The hi$hest in#iden#e !epo!ted fo! #left lip and palate o## !s in the Native A"e!i#an t!i%es of Montana, USA /0167.2& Altho $h #left lip and palate is an e-t!e"el' dive!se and va!ia%le #on$enital a%no!"alit', seve!al distin#t s %$!o ps e-ist, na"el' #left lip )ith8)itho t #left palate /CL8P2, #left palate alone /CP2 and s %" #o s #left palate/SMCP2& The t'pi#al dist!i% tion of #left t'pes is1 9#left lip alone : 04 pe! #ent; 9#left lip and palate <<<<<<=4 pe! #ent; 9isolated #left palate : =+ pe! #ent& Cleft lip8palate p!edo"inates in "ales )he!eas #left palate alone appea!s "o!e #o""on in fe"ales& In nilate!al #left lip, the defo!"it' affe#ts the left side in .+ pe! #ent of #ases& Aetiolo$' Conte"po!a!' opinion on the aetiolo$' of #left lip and palate is that #left lip and palate /CL8P2 and isolated #left palate have a $eneti# p!edisposition and a #ont!i% to!' envi!on"ental #o"ponent& A fa"il' histo!' of #left lip and palate in )hi#h the fi!st< de$!ee !elative is affe#ted in#!eases the !is5 to one in 64 live %i!ths& >eneti# infl en#e is "o!e si$nifi#ant in #left lip8palate than #left palate alone )he!e envi!on"ental fa#to!s e-e!t a $!eate! infl en#e& Envi!on"ental fa#to!s i"pli#ated in #leftin$ in#l de "ate!nal epileps' and d! $s /e&$& ste!oids, dia,epa", phen'toin2, altho $h the %enefit of antenatal foli# a#id s pple"ent to p!event #left lip and palate !e"ains e( ivo#al& Altho $h "ost #lefts of the lip and palate o## ! as an isolated defo!"it', the Pie!!e Ro%in se( en#e !e"ains the "ost #o""on s'nd!o"e& This s'nd!o"e #o"p!ises isolated #left palate, !et!o$nathia and a poste!io!l' displa#ed ton$ e /$lossoptosis2, )hi#h is asso#iated )ith ea!l' !espi!ato!' and feedin$ diffi# lties& Isolated #left palate is "o!e #o""onl' asso#iated )ith a s'nd!o"e than #left lip8palate and #left lip alone& 3ve! 04+ s'nd!o"es a!e asso#iated )ith #left lip and palate, altho $h Sti#5le! /ophthal"i# and " s# los5eletal a%no!"alities2, Shp!int,en /#a!dia# ano"alies2, Do)n?s, Ape!t?s and T!ea#he! Collins? a!e "ost f!e( entl' en#o nte!ed&

Classifi#ation An' #lassifi#ation fo! s #h a dive!se and va!ied #ondition as #left lip and palate needs to %e si"ple, #on#ise, fle-i%le, e-a#t % t $!aphi#& It " st %e s ita%le fo! #o"p te!isation % t des#!iptive and "o!pholo$i#al& An e-a"ple of s #h a #lassifi#ation is the LAHSHAL s'ste" )hi#h is a%le to des#!i%e site, si,e, e-tent as )ell as t'pe of #left /@i$& *7&02& Co"plete #lefts of the lip, alveol s, and ha!d and soft palate a!e desi$nated #apital L, A, H and 4, !espe#tivel', )he!eas in#o"plete #lefts a!e !e#o!ded in s"all lette!s; "i#!ofo!" #lefts a!e do# "ented )ith aste!is5s& Hen#e, LAHSHAL is the anato"i#al pa!aph!ase of a #o"plete %ilate!al #left lip and palate& Anothe! e-a"ple, lahSh, !ep!esents an in#o"plete !i$ht nilate!al #left lip and alveol s )ith a #o"plete #left of soft palate e-tendin$ pa!tl' on to the ha!d palate& P!i"a!' "ana$e"ent Antenatal dia$nosis An antenatal dia$nosis of #left lip, )hethe! nilate!al o! %ilate!al, is possi%le %' lt!aso nd s#an afte! 0A )ee5s of $estation& Isolated #left palate #annot %e dia$nosed on an antenatal s#an& When an antenatal dia$nosis is #onfi!"ed, !efe!!al to a #left s !$eon is app!op!iate fo! #o nsellin$ to alla' fea!s& Photo$!aphs of #left lip sho)n to pa!ents B%efo!e and afte!? s !$e!' a!e inval a%le& Int!od #tion to a pa!ent s ppo!t $!o p and "eetin$ pa!ents of a #hild )ith a si"ila! #left )ho has nde!$one s !$e!' "a' also %e e-t!e"el' helpf l& @eedin$ Most %a%ies %o!n )ith #left lip and palate feed )ell and th!ive p!ovided app!op!iate advi#e is $iven and s ppo!t availa%le& So"e "othe!s a!e s ##essf l in %!eastfeedin$, pa!ti# la!l' )hen the #left is in#o"plete and #onfined to the lip& >ood feedin$ patte!ns #an %e esta%lished )ith soft %ottles /e&$& Mead Johnson2 and "odified teats /o!thodonti#, N '52& Si"ple "eas !es, s #h as enla!$in$ the hole in the teat, often s ffi#e& @eedin$ plates, #onst! #ted f!o" a dental i"p!ession of the ppe! Ca), a!e !a!el' ne#essa!' to i"p!ove feedin$& So"e %a%ies a!e p!ovided )ith an a#tive plate )hi#h ai"s not onl' to i"p!ove feedin$ % t also !ed #e the )idth of the #left lip and palate p!io! to s !$e!'& The lon$<te!" %enefit of s #h a !e$i"e !e"ains np!oven& Ai!)a' MaCo! !espi!ato!' o%st! #tion is n#o""on and o## !s e-#l sivel' in %a%ies )ith Pie!!e Ro%in se( en#e& H'po-i# episodes d !in$ sleep and feedin$ #an %e life th!eatenin$& Inte!"ittent ai!)a' o%st! #tion is "o!e f!e( ent and "ana$ed %' n !sin$ the %a%' p!one& Mo!e seve!e and pe!sistent ai!)a' #o"p!o"ise #an %e "ana$ed %' B!etained nasopha!'n$eal int %ation? to "aintain the ai!)a'& S !$i#al adhesion of the ton$ e to the lo)e! lip /la%io$lossope-'2 in the fi!st fe) da's afte! %i!th is an alte!native % t less #o""onl' p!a#tised "ethod of "ana$e"ent& P!in#iples of #left s !$e!' The lti"ate $oal in #left lip and palate "ana$e"ent is a patient )ith no!"al appea!an#e of lip, nose and fa#e, )hose spee#h is no!"al and )hose dentition and fa#ial $!o)th fall )ithin the !an$e of no!"al develop"ent& S !$i#al te#hni( es a!e ai"ed to !esto!e no!"al anato"'& With the e-#eption of !a!e #onditions s #h as holop!osen#ephal', the!e is no t! e h'poplasia of the tiss es involved eithe! side of the #left& The!e is, ho)eve!, displa#e"ent, defo!"ation and nde!develop"ent of the " s#les and fa#ial s5eleton& E"phasis is pla#ed on " s# la! !e#onst! #tion of the lip, nose and fa#e, as )ell as " s#les of the soft palate& No!"al

o! nea!<no!"al anato"' p!o"otes no!"al f n#tion, the!e%' en#o !a$in$ no!"al $!o)th and develop"ent of lip, nose, palate and fa#ial s5eleton& An in<depth nde!standin$ of the anato"' of the #left is inval a%le if the s !$eon is to a#hieve no!"al, o! nea!<no!"al, anato"i#al !e#onst! #tion& Anato"' of #left lip and palate Cleft lip The a%no!"alities in #left lip a!e the di!e#t #onse( en#e of dis! ption of the " s#les of the ppe! lip and nasola%ial !e$ion& The fa#ial " s#les /@i$& *7&62 #an %e divided into the th!ee " s# la! !in$s of Delai!e& Unilate!al #left lip& In the nilate!al #left lip, the nasola%ial and %ila%ial " s#le !in$s a!e dis! pted on one side !es ltin$ in an as'""et!i#al defo!"it' involvin$ the e-te!nal nasal #a!tila$es, nasal sept " and ante!io! "a-illa /p!e"a-illa2 /@i$& *7&*2& These defo!"ities infl en#e the " #o# taneo s tiss es #a sin$ displa#e"ent of nasal s5in on to the lip and !et!a#tion of la%ial s5in, as )ell as #han$es to the ve!"ilion and lip " #osa& All of these #han$es need to %e #onside!ed in plannin$ the s !$i#al !epai! of the nilate!al #left lip& Dilate!al #left lip& In the %ilate!al #left lip, the defo!"it' is "o!e p!ofo nd % t s'""et!i#al& The t)o s pe!io! " s# la! !in$s a!e dis! pted on %oth sides p!od #in$ a fla!in$ of the nose /d e to la#5 of nasola%ial " s#le #ontin it'2, a p!ot! sive p!e"a-illa and an a!ea of s5in in f!ont of the p!e"a-illa, 5no)n as the p!ola%i ", devoid of " s#le /@i$& *7&=2& As in the nilate!al #left lip, the " s# la!, #a!tila$ino s and s5eletal defo!"ities infl en#e the " #o# taneo s tiss es, )hi#h " st %e !espe#ted in plannin$ the !epai! of the %ilate!al #left lip& Cleft palate E"%!'olo$i#all', the p!i"a!' palate #onsists of all anato"i#al st! #t !es ante!io! to the in#isive fo!a"en, na"el' the alveol s and ppe! lip& The se#onda!'palate is defined as the !e"ainde! of the palate %ehind the in#isive fo!a"en divided into the ha!d palate and, "o!e poste!io!l', the soft palate& Cleft palate !es lts in fail !e of f sion of the t)o palatine shelves& This fail !e "a' %e #onfined to the soft palate alone o! involve %oth ha!d and soft palate& When the #left of the ha!d palate !e"ains atta#hed to the nasal sept " and vo"e!, the #left is te!"ed in#o"plete& When the nasal sept " and vo"e! a!e #o"pletel' sepa!ated f!o" the palatine p!o#esses, the #left palate is te!"ed #o"plete& Soft palate& In the no!"al soft palate, #los !e of the velopha!'n-, )hi#h is essential fo! no!"al spee#h, is a#hieved %' five diffe!ent " s#les f n#tionin$ in a #o"plete % t #oo!dinated fashion& In $ene!al, the " s#le fi%!es of the soft palate a!e o!ientated t!ansve!sel' )ith no si$nifi#ant atta#h"ent to the ha!d palate& In a #left of the soft palate, the " s#le fi%!es a!e o!ientated in an ante!oposte!io! di!e#tion, insettin$ into the poste!io! ed$e of the ha!d palate /@i$& *7&42& Ha!d palate& The no!"al ha!d palate #an %e divided into th!ee anato"i#al and ph'siolo$i#al ,ones /@i$& *7&.2& The #ent!al palatal fl%!o" #osa is ve!' thin and lies di!e#tl' %elo) the floo! of nose& The "a-illa!' fi%!o" #osa is thi#5 and #ontains the $!eate! palatine ne !ovas# la! % ndle& The $in$ival fi%!o" #osa lies "o!e late!al and adCa#ent to the teeth& In pe!fo!"in$ s !$i#al #los !e of #left palate the #han$es asso#iated )ith the #left " st %e nde!stood to o%tain an anato"i#al and f n#tional !epai!& In #o"plete #left palate the "edian pa!t of the palatal va lt is a%sent and the palatal fi%!o" #osa is !ed #ed in si,e& The "a-illa!' and $in$ival fi%!o" #osa a!e not "odified in thi#5ness, )idth o! position&

S !$i#al te#hni( es The!e have %een "an' diffe!ent s !$i#al te#hni( es and se( en#es advo#ated in #left lip and palate "ana$e"ent& Cleft lip !epai! is #o""onl' pe!fo!"ed %et)een * and . "onths of a$e, )he!eas #left palate !epai! is f!e( entl' pe!fo!"ed %et)een . and 0A "onths& The Delai!e te#hni( e and se( en#e /Ta%le *7&02 is one of "an' !e$i"es # !!entl' p!a#tised& Cleft lip s !$e!' S5in in#isions /@i$ *7&7 and @i$& *7&A2 a!e developed to !esto!e displa#ed tiss es in#l din$ s5in and #a!tila$e to thei! no!"al position, )hilst $ainin$ a##ess to the fa#ial, nasal and lip " s# lat !e& M s# la! #ontin it' is a#hieved %' s %pe!iosteal nde!"inin$ ove! the ante!io! "a-illa& Nasola%ial " s#les a!e an#ho!ed to the p!e"a-illa )ith non<!eso!%a%le s t !es& 3%li( e " s#les of o!%i# la!is o!is a!e s t !ed to the %ase of the ante!io! nasal spine and #a!tila$ino s nasal sept "& Clos !e of the #left lip is #o"pleted %' s t !in$ the ho!i,ontal fi%!es of o!%i# la!is o!is to a#hieve a f n#tionin$ o!al sphin#te! /@i$ *7&E and @i$ *7&0+2& Cleft palate s !$e!' Cleft palate #los !e #an %e a#hieved %' one< o! t)o<sta$e palatoplast'& The s !$i#al p!in#iple is "o%ili,ation and !e#onst! #tion of the a%e!!ant soft palate " s# lat !e /@i$& *7&002,to$ethe! )ith #los !e of the !esid al ha!d palate #left %' "ini"al disse#tion and s %se( ent s#a! fo!"ation /@i$& *7&062& E-#ess s#a! fo!"ation in the palate adve!sel' affe#ts $!o)th and develop"ent of the "a-illa& The philosoph' of t)o<sta$e #los !e en#o !a$es a ph'siolo$i#al na!!o)in$ of the ha!d palate #left to "ini"i,e s !$i#al disse#tion at the ti"e of the se#ond p!o#ed !e& Se#onda!' "ana$e"ent @ollo)in$ p!i"a!' s !$e!', !e$ la! !evie) %' a " lti<dis#iplina!' tea" is essential& Man' aspe#ts of #left #a!e !e( i!e lon$<te!" !evie)& Hea!in$ E sta#hian t %e d'sf n#tion pla's a #ent!al !ole in the patho$enesis of otitis "edia )ith eff sion in %a%ies and #hild!en %o!n )ith a #left palate& Child!en )ith a #left lip alone e-hi%it the sa"e f!e( en#' of otitis "edia as thei! a$e<"at#hed non#left #o nte!pa!ts& It has %een !e#entl' !e#o$nised that a #hild )ith a #!aniofa#ial ano"al' in#l din$ #left lip and palate is at in#!eased !is5 of a senso!ine !al hea!in$ defi#it& All #hild!en %o!n )ith a #left lip and palate sho ld nde!$o assess"ent %efo!e 06 "onths of a$e fo! senso!ine !al and #ond #tive hea!in$ loss %' a dito!' %!ainste" !esponses /ADR2 and t'"pano"et!', !espe#tivel'& Senso!ine !al hea!in$ loss is "ana$ed )ith a hea!in$ aid, )hilst the "ana$e"ent of se#!eto!' otitis "edia !e"ains "o!e #ont!ove!sial& Ea!l' /.:06 "onths old2 p!oph'la#ti# "'!in$oto"' and $!o""et te"po!a!il' eli"inates "iddle ea! eff sion& Re$ la! a diolo$i#al testin$ "a' %e as app!op!iate, !ese!vin$ s !$e!' fo! esta%lished se#!eto!' otitis "edia )ith infe#tion& No fi!" eviden#e is availa%le to s ppo!t the inte!ventional app!oa#h ove! the #onse!vative !e$i"e& Neve!theless, the !elationship %et)een hea!in$ loss and potential spee#h p!o%le"s !e"ains i"po!tant& Re$ la! a diolo$i#al assess"ent d !in$ #hildhood is of t"ost i"po!tan#e& Spee#h Initial spee#h assess"ent sho ld %e pe!fo!"ed ea!l' /0A "onths2 and !epeated !e$ la!l' to ens !e that p!o%le"s a!e identified ea!l' and "ana$ed app!op!iatel'&

Co""on spee#h p!o%le"s asso#iated )ith #left lip and palate a!e1 9 Felopha!'n$eal in#o"peten#e : this is asso#iated )ith in#!eased nasal ai!flo) and !esonan#e p!od #in$ a nasal o! Bh'pe!nasal? ( alit' to spee#h& It f!e( entl' !efle#ts poo! f n#tion of soft palate asso#iated )ith inade( ate " s#le !epai!& 9 A!ti# lation p!o%le"s : these eithe! a!ise as a #o"pensato!' "e#hanis" to ove!#o"e velopha!'n$eal in#o"peten#e o!, less #o""onl', a!e d e to Ca)8dental and o##l sal a%no!"alities& Investi$ation %'1 9 videofl o!os#op' 9nasal ai!flo) st dies /ae!ophonos#op'2 9nasendos#op' is helpf l in definin$ the e-a#t "e#hanis" of the p!o%le" )hi#h aids "ana$e"ent& Spee#h p!o%le"s a!e "ana$ed %'1 9spee#h and lan$ a$e the!ap'; 9se#onda!' palatal s !$e!'1 : int!avela! veloplast' /" s# la! !e#onst! #tion of soft palate2; : pha!'n$oplast'; 9spee#h<t!ainin$ devi#es& Dental Dental ano"alies a!e #o""on findin$s in #hild!en )ith #left lip and8o! palate& Fa!io s pheno"ena in#l de dela'ed tooth develop"ent and dela'ed e! ption of teeth; "o!pholo$i#al a%no!"alities a!e also )ell do# "ented& The n "%e! of teeth "a' %e !ed #ed /h'podontia2 o! in#!eased /h'pe!dontia2, and o## !s "ost #o""onl' in the !e$ion of the #left alveol s involvin$ the "a-illa!' late!al in#iso! tooth& These a%no!"alities #an o## ! in %oth p!i"a!' and se#onda!' dentition& 0.G All #hild!en )ith #left lip and palate sho ld nde!$o !e$ la! dental e-a"ination& Dental "ana$e"ent sho ld also in#l de p!eventive "eas !es s #h as dieta!' advi#e, fl o!ide s pple"ents and fiss !e sealants& A )ell<"aintained and disease<f!ee dentition in #hildhood is an a%sol te p!e!e( isite fo! o!thodonti# t!eat"ent& 3!thodonti# "ana$e"ent Man' #hild!en )ith #left lip and palate !e( i!e o!thodonti# t!eat"ent& 3!thodonti# t!eat"ent is #o""onl' #a!!ied o t in t)o phases1 9"i-ed dentition /A:0+ 'ea!s2 : to e-pand the "a-illa!' a!#hes as a p!el de to alveola! %one $!aft; 9pe!"anent dentition /0=:0A 'ea!s2 : to ali$n the dentition and p!ovide a no!"al f n#tionin$ o##l sion& This phase of t!eat"ent "a' also in#l de s !$i#al #o!!e#tion of a "alpositioned8!et! sive "a-illa %' "a-illa!' osteoto"' /@i$& *7&0*2& Se#onda!' s !$e!' fo! #left lip and palate >ood o t#o"e in #left lip and palate is di!e#tl' att!i% ta%le to the ( alit' of p!i"a!' s !$e!'& Poo!l' e-e# ted p!i"a!' s !$e!' leads to !esid al defo!"it' of the lip and nose, to$ethe! )ith poo! spee#h& I"pai!ed $!o)th of the "idfa#e /"a-illa2 is no) att!i% ted to poo! and t!a "ati# p!i"a!' s !$e!'& S !$i#al te#hni( es " st endeavo ! to "ini"i,e s#a!!in$& Despite ade( ate p!i"a!' s !$e!', !esid al p!o%le"s do o## ! and a!e "ana$ed )ith app!op!iate se#onda!' p!o#ed !es /Ta%le *7&62& The "ana$e"ent of #hild!en )ith #left lip and palate is #o"ple-, !e( i!in$ the s5ill of a " ltidis#iplina!' tea"& Ea#h tea" sho ld in#l de p!ofessionals )ho a!e app!op!iatel' ( alified )ith spe#ialist t!ainin$, t!eatin$ an ade( ate n "%e! of patients pe! 'ea!& Meti# lo s !e#o!d<5eepin$ of photo$!aph', !adiolo$', dental #asts

and spee#h !e#o!din$ a!e indispensa%le, and pe!"it !e$ la! a dit and i"p!oved o t#o"es& Developmental abnormalities of the face, palate, jaws and teeth Treacher Collins syndrome /@i$& *7&0=2 T!ea#he! Collins? s'nd!o"e o! "andi% la! fa#ial d'sostosis has a va!ia%le p!esentation& The #a!dinal feat !es a!e of an anti<"on$oloid palpa%le fiss !e )ith a #olo%o"a o! $!oove in the o te! po!tion of the lo)e! lids )ith defi#ien#' of the e'elashes& The!e is $ene!all' h'poplasia of the "idfa#e and ,'$o"ati# %ones, and o##asionall' of the "andi%le& The!e "a' %e "alfo!"ation of the e-te!nal ea! nilate!all' o! %ilate!all'& Ma#!osto"ia and fa#ial #lefts "a' a##o"pan' this #ondition& Crouzons disease (Fi . 37.!"# This is also 5no)n as #!aniofa#ial d'sostosis and "a' o## ! to$ethe! )ith s'nda#t'l'& This is a $eneti# disease #ha!a#te!ised %' p!ot! %e!ant f!ontal %ones, a h'poplasti# "a-illa )ith !elative "andi% la! p!o$nathis"& The h'poplasia "a' %e so seve!e that the $lo%es of the e'e a!e p!ot! %e!ant to a de$!ee that #o!neal l#e!ation and loss of si$ht #an o## !& The!e "a' )ell %e a h'pe!telio!is" and dive!$ent st!a%is" s& Most patients have a no!"al #e!e%!al f n#tion& Pierre Robins syndrome This #ondition is #ha!a#te!ised %' "i#!o$nathia /s"all lo)e! Ca)2 and $lossoptosis& The!e is al"ost al)a's a #left palate& The ove!all i"p!ession is of %i!d fa#es& It does not appea! to %e an inhe!ited s'nd!o"e and it has %een tho $ht that e-t!e"e fle-ion of the ne#5 d !in$ foetal life "a' #ont!i% teto the diso!de!1 the ton$ e is th! st p)a!ds %et)een the palatal shelves )hi#h fail to f se so #a sin$ the #left palate to develop& Re#ent )o!5 on $ene f n#tion s $$ests that defi#ien#ies one of the t!ansfo!"ation $!o)th fa#to!s /T>@D*2 is !esponsi%le& Respi!ato!' o%st! #tion d e to poo! #ont!ol of the ton$ e and diffi# lties )ith s #5lin$ !e( i!e #a!ef l neonatal "ana$e"ent& He"ifa#ial "i#!oso"ia /fi!st a!#h s'nd!o"e :@i$& *7&0.2 In this #ondition tiss es )hi#h see" to have %een de!ived f!o" the fi!st %!an#hial a!#h a!e defi#ient& A %ette! nde!standin$ of the e"%!'olo$', and e-pe!i"ental )o!5 %' Pos)illo, have indi#ated that the!e "a' %e hae"o!!ha$e f!o" the stapedial a!te!' a!o nd the si-th )ee5 of int!a te!ine develop"ent& Tiss es that )e!e in develop"ent at that ti"e a!e da"a$ed %' the hae"o!!ha$e and the s %se( ent !eo!$anisation so that tiss es a!e s"alle! o! fail to develop #o"pletel'& The e-p!ession is va!ia%le % t the!e is al)a's h'poplasia o! a%sen#e of the "andi% la! #ond'le and pa!t of the !a" s of the "andi%le& The "asti#ato!' " s#les a!e defi#ient, and the e-te!nal, "iddle and inne! ea! "a' fail to develop& Th s, the!e is the appea!an#e of h'poplasia o! the affe#ted side of the fa#e and head )ith the pinna a%sent and the e-te!nal a dito!' "eat s ! di"enta!' o! a%sent& S5in ta$s ove! the side of the fa#e %eneath the ea! a!e #o""on& The #hild is al"ost al)a's deaf in the affe#ted ea!& As the $!o)th #ent!e at the "andi% la! #ond'le is defi#ient, the defo!"it' p!o$!esses th!o $ho t ea!l' life and pa!ti# la!l' at p %e!t'& The patient !e( i!es e-pe!t #!aniofa#ial s !$e!' that is dela'ed as lon$ as possi%le % t is $ene!all' #a!!ied o t at the a$e of A 'ea!s& @ !the! s !$e!' is s all' !e( i!ed postp %e!t'& Maxillomandibular disproportion

An$le, an A"e!i#an o!thodontist, p t the o##l sion of the teeth into th!ee #lasses1 9#lass I : no!"al !elationship of the lo)e! to the ppe! teeth in the "ola! a!ea; 9#lass II : the lo)e! "ola! teeth a!e pla#ed poste!io! to the no!"al position; 9#lass III : the poste!io! "ola! teeth a!e pla#ed ante!io! to the no!"al position& This #lassifi#ation has %een e-tended to in#l de the fa#ial s5eleton s #h that1 9s5eletal II : s"all "andi%le is pla#ed poste!io! to the no!"al position in !elation to the "a-illa; 9s5eletal III : "andi%le is pla#ed ante!io! to the no!"s position !elative to the "a-illa& It is a helpf l des#!iption of a fa#ial s5eletal defo!"it', % t it onl' des#!i%es the "andi%le in !elation to the "a-illa )hi#h itself "a' %e h'pe!plasti# o! h'poplasti#& Th s, the& BHaps% !$ Ca)? )hi#h des#!i%ed the fa"ilial feat !es of the !o'al ho ses of E !ope in the nineteenth #ent !' des#!i%es la!$e lo)e! Ca), a h'pe!plasti# "andi%le, )hi#h is f!e( entl' asso#iated )ith a h'poplasti# "a-illa )hi#h a##ent ates the defo!"it' in the "andi%le& The "ost #o""on defo!"it' of the fa#ial s5eleton in the Ca #asian is the h'poplasti# "andi%le : s5eletal #lass II <)hi#h $ives the i"p!ession of a h'pe!plasti# "a-illa as the ppe! teeth a!e ve!' p!o"inent& A h'pe!plasti# "a-illa alone is ve!' n s al& Di"a-illa!' p!ot! sion is a !a#ial #ha!a#te!isti# of the Af!i#an !a#es& 3##asionall' the "andi%le "a' $!o) la!$e and as'""et!i# o)in$ to h'pe!plasia of the "andi% la! #ond'la! ne#5& Ra!el', a he"i"andi%le "a' %e h'poplasti#& 3!tho$nathi# s !$e!' 3!tho$nathi# s !$e!' is the te!" $iven to the #o!!e#tion of defo!"ities of the teeth and Ca)s& It sho ld al)a's %e nde!ta5en in #lose #o<ope!ation )ith #ons ltant o!thodontists and #ons ltant o!al and "a-illofa#ial s !$eons& Co!!e#tion of "a-illo"andi% la! disp!opo!tion is f!e( entl' di!e#ted to)a!ds #han$in$ the position of %oth the "a-illa and the "andi%le, s all' at the end of the $!o)th pe!iod& It is essential that the!e sho ld %e a tea" app!oa#h, )ith t!eat"ent plannin$ s all' #o""en#in$ at the a$e of 06:0* 'ea!s& T!eat"ent of the s'nd!o"es, so"e of )hi#h a!e des#!i%ed a%ove, "a' !e( i!e " #h ea!lie! t!eat"ent /see %elo)2& The o!thodontist p!epa!es the dental a!#hes fo! thei! ne) position p!eope!ativel', and #ontin es postope!ativel' )ith the lti"ate $oal of a pe!fe#t dental o##l sion )ithin . "onths of the s !$e!'& The o!tho$nathi# s !$e!' is $ene!all' #a!!ied o t th!o $h in#isions )ithin the "o th avoidin$ s5in in#isions )he!e possi%le& The ppe! and lo)e! Ca)s a!e "o%ilised individ all' and fi-ed %' "eans of s"all stainless steel o! titani " plates and fi-ed %' "eans of stainless steel o! titani " "iniplates& Splintin$ of the ppe! and lo)e! teeth %' va!io s "eans is nde!ta5en int!aope!ativel' to a#hieve an a## !ate and planned o##l sion& Us all' it is possi%le to leave the "andi%le f!ee fo! the "o th to %e opened at the dan$e!o s ti"es in the fi!st 6= ho !s postope!ativel'& An e-a"ple of "a-illo"andi% la! disp!opo!tion "a' %e seen in @i$& *7&07, )ith the effe#t of %i"a-illa!' s !$e!' in @i$& *7&0A& Craniofacial sur ery C!aniofa#ial s !$e!' is nde!ta5en in a fe) desi$nated #ent!es in the UH )he!e the tea" of an o!thodontist and a "a-illofa#ial s !$eon is a $"ented to in#l de a #!aniofa#ial s !$eon / s all' )ith plasti# s !$e!' t!ainin$2, ne !os !$eons and ea!, nose and th!oat /ENT2 s !$eons& The )hole tea" in#l des dedi#ated n !sin$ staff, %oth in the )a!d and in the ope!atin$ theat!e, spee#h the!apists and a diolo$ists& The

p!in#iples of t!eat"ent a!e to #o!!e#t defo!"ities f!o" the #!ani " do)n)a!ds& Th s, in C!o ,on?s disease /see a%ove2 the #!aniofa#ial s !$eon )ith the ne !os !$eon )ill #o!!e#t the #!anial defo!"it' in the fi!st 6:* 'ea!s of life, and )ill !et !n to deal )ith the "idfa#e %' the a$e of . o! 7 'ea!s, often in #o<ope!ation )ith the "a-illofa#ial s !$eon& @inal #o!!e#tion )ill %e to the "id and lo)e! fa#e )ith the patient in thei! "id<teens )he!e the' "a' %e t!eated " #h li5e a "o!e st!ai$htfo!)a!d o!tho$nathi# #ase& The s !$i#al p!in#iples involve dividin$ the va!io s %ones of the fa#e and s5 ll, inse!tin$ %one $!afts )he!e app!op!iate, and "aintainin$ the position of the %ones %' "iniplates o! "i#!oplates "ade of stainless steel o! titani "& The s !$e!' to the #!ani " as fa! fo!)a!d as the nose and late!al %o!de! of the o!%its "a' %e #a!!ied o t th!o $h a #o!onal in#ision, p llin$ the s#alp do)n)a!ds and fo!)a!ds ove! the fa#e& @o! a##ess to pa!ti# la! a!eas, in#isions a!e "ade th!o $h the s5in a!o nd the o!%its at sites )he!e the s#a!!in$ is %a!el' noti#ea%le& Ne) develop"ents in osteo$eni# dist!a#tion in the ea!l' $!o)th pe!iod in the seve!e a%no!"alities "a' $!eatl' #han$e and !ed #e the "aCo! s !$e!' that is # !!entl' nde!ta5en on patients )ith fa#ial defo!"it'& $ther developmental a%normalities in the face and jaws @ail !e of f sion, o! in#l sions of epitheli " )he!e va!io s p!o#esses "eet d !in$ develop"ent, #an lead to #'sts and fist lae a!o nd the fa#e, the Ca)s and the ne#5& C'sts "a' develop and then %e#o"e infe#ted, leadin$ to pe!sistent sin ses& E-a"ples a!e as follo)s& 9 P!e<a !i# la! #'st : f sion of the si- t %e!#les a!o nd the e-te!nal a dito!' #anal #an lead to fo!"ation of one o! "o!e na!!o), %lind pits o!, pe!haps, a #'st& Infe#tion of the #'st "a' lead to a pe!sistent dis#ha!$in$ sin s )hi#h )o ld need to %e e-#ised& 9 Pe!ia !i# la! de!"oid #'st : these "a' develop f!o" nde! the p "a as a fl #t ant s)ellin$, s all' poste!io!l'& The' o## ! in the position )he!e the t)o adCa#ent a !i# la! t %i#les sho ld "e!$e& 9 >lo% lo"a-illa!' #'st : #'sts "a' develop in the alveol s in the position )he!e the $lo% lo"a-illa!' p!o#esses sho ld f se )ith the f!ontonasal p!o#ess& The #'st o## !s late!al to a vital se#ond ppe! in#iso! and #anine& These have to %e diffe!entiated f!o" a !adi# la! #'st developin$ on a nonvital late!al in#iso!& 9 Nasola%ial #'st : these o## ! in a si"ila! position to the $lo% lo"a-illa!' #'st, % t in the soft tiss es of the ppe! lip& The' a!e e-t!e"el' !a!e& 9 C'sts of the in#isive #anal : the t)o palatal shelves f se )ith the p!e"a-illa at the site of the e-it f!o" the palate of the ne!ve of the in#isive #anal& This #anal "a' fo!" a #'st o! %e patent, leadin$ to !e# !!ent infe#tions in this a!ea& Those that have a patent #anal "a' enCo' the pa!t' <t!i#5 of p!od #in$ a hi$h<pit#hed s( ea5in$ o! )histlin$ so nd as the' !aise the p!ess !e in the "o th, dis#ha!$in$ ai! into the nose& 9 3!al de!"oids : these a!e de!ived f!o" e"%!'oni# epitheli " and #an o## ! an')he!e )he!e the fa#ial p!o#esses fail to f se #o"pletel'& The' a!e !a!e, % t the "ost #o""on site is the "idline of the floo! of the "o th& The' sho ld not %e #onf sed )ith the !an la, )hi#h is a " #o s e-t!avasation #'st de!ived f!o" the lin$ al $land& 9 !ranchial cysts : these o## ! in the late!al aspe#t of the ppe! ne#5 of 'o n$ ad lts as a slo)<$!o)in$ fl #t ant s)ellin$& It had %een ass "ed that these o## ! as a !es lt of fail !e of f sion %!an#hial a!#hes& The' a!e lined )ith l'"phoid tiss e, and the # !!ent vie) is that the' a!e de!ived f!o" #'sti# t!ansfo!"ation of $land la!

epitheli " in#l ded in l'"phoid a$$!e$ates d !in$ e"%!'o$enesis& The # !!ent no"en#lat !e is l'"phoepithelial #'st& 9 3!al to!i /@i$ *7&0E and @i$ *7&6+2 : it is n#e!tain as to )hethe! these a!e t! e develop"ental a%no!"alities& The' o## ! at t)o "aCo! sites, the "ost #o""on lies on the "edial side of the "andi% la! alveol s in the !e$ion of the p!e"ola! teeth& Less f!e( entl' "idline palatal to!i o## !, a$ain in line )ith the p!e"ola! teeth& These a!e dense, %on' s)ellin$s that #a se no p!o%le" apa!t f!o" o##asional l#e!ation, pa!ti# la!l' if dent !es a!e to %e )o!n& The' a!e onl' !e"oved if the' #a se diffi# lt' in the )ea!in$ of dent !es& 9 C'sts in the th'!o$lossal t!a#t : the th'!oid $land develops as an eva$ination of the epitheli " at the C n#tion of the ante!io! t)o<thi!ds and the poste!io! thi!d of the ton$ e, the fo!a"en #ae# "& A vesti$ial epithelial !e"nant "a' !e"ain and #'sts "a' o## ! alon$ the line of this d #t& The' "a' %e an')he!e on a line f!o" the s !fa#e of the ton$ e /@i$& *7&602, do)n to and %ehind the h'oid %one o! to the isth" s of the th'!oid $land& 3##asionall' th'!oid tiss e "a' develop and !e"ain at the site of o!i$in in the %ase of the ton$ e& S !$i#al t!eat"ent C'sts a!e, %' definition, epithelial lined #avities, and )he!e s)ellin$s #a se diffi# lt', e"%a!!ass"ent o! !e# !!ent infe#tions the linin$ has to %e !e"oved& Whe!e infe#tion "a' #a se sin s fo!"ation, the epithelial t!a#5 has to %e !e"oved& The s !$e!' "a' %e "aCo! and #o"ple-, o! "ino!, a##o!din$ to site& Con enital and developmental anomalies of the teeth Dental la"ina Teeth develop f!o" the dental la"ina, a st!and of epitheli " o!i$inatin$ f!o" the o!al " #osa, )hi#h "i$!ates %a#5)a!ds f!o" the in#iso! !e$ion of %oth "andi%le and "a-illa %e$innin$ in the si-th )ee5 of int!a te!ine life& As it "i$!ates %a#5)a!ds tooth % ds a!e fo!"ed )hi#h event all' develop into the teeth and !oots, ea#h )ith its #ha!a#te!isti# shape, a##o!din$ to the position in the Ca)& A%no!"alities in its "i$!ation "a' lead to a%no!"alities that a!e laid o t %elo)& The #on#ept of the dental la"ina, ho)eve!, has #han$ed in !e#ent 'ea!s, as it )o ld see" that the epitheli " !esponsi%le fo! developin$ the teeth is not the dental la"ina as s #h % t "odifi#ations of the o!al " #osa& This inva$inates %eneath the alveol s p!o$!essivel' poste!io!l' f!o" the in#iso! !e$ion nde! the infl en#e of $enes and a#tivato!s, )hi#h a!e spe#ifi# fo! ea#h pa!t of the "o th, in a ti"e<)indo) of 6:* da's& The total n "%e! of the se#onda!' dentition is *6& The thi!d "ola! o! )isdo" tooth "a' fail to develop in an' of the fo ! ( ad!ants& La#5 of spa#e "a' #a se the" to i"pa#t into the se#ond "ola!s o! %a#5)a!ds into the !a" s& These "a' lead to pe!i#o!onal infe#tion late! in life and the thi!d "ola!s "a' !e( i!e !e"oval& The ppe! late!al in#iso!s "a' fail to develop o! develop as s"all, pe$ shaped teeth& This is no!"all' asso#iated )ith an i"pa#tion of the #anines and is tho $ht to %e asso#iated )ith fa lts in the dental la"ina o! $ene defi#ien#ies d !in$ develop"ent& @ail !e to develop a la!$e n "%e! of p!i"a!' and se#onda!' teeth is 5no)n as h'podontia& It "a' %e asso#iated )ith othe! fo!"s of e#tode!"al d'splasia )he!e the!e is a la#5 of se%a#eo s and s)eat $lands& Conside!a%le p!o%le"s a!e en#o nte!ed in p!ovidin$ a f n#tional dentition, pa!ti# la!l' d !in$ the $!o)th pe!iod& S pe!n "e!a!' teeth and odonto"es S pe!n "e!a!' teeth tend to o## ! in the sa"e a!eas )he!e teeth "a' %e a%sent : the late!al in#iso!, se#ond p!e"ola! and the thi!d "ola! a!eas& >ene!all' the' a!e s"alle!

than the no!"al teeth in the sa"e a!ea and seldo" develop little "o!e than a #!o)n and a vesti$ial !oot& The' "a' %e " ltiple& In the in#iso! !e$ion the' "a' %e !esponsi%le fo! the fail !e of e! ption of adCa#ent pe!"anent teeth, pa!ti# la!l' the #ent!al and late!al in#iso!s and #anine& The' $ene!all' lie palatal to thei! no!"al #o nte!pa!ts& The' have to %e !e"oved to allo) e! ption of the pe!"anent teeth to o## !& Ra!el', in the thi!d "ola! !e$ion, denti$e!o s #'sts "a' develop a!o nd the #!o)n& These a!e #ha!a#te!ised %' a !adio$!aphi# appea!an#e of a #'st envelopin$ the #!o)n of the tooth that is displa#ed& 3donto"es a!e a$$!e$ations of tooth<li5e "ate!ial and "a' ta5e the fo!" of " ltiple s"all teeth /denti#les, a #o"po nd #o"ple- odonto"e2 o! i!!e$ la! "asses of dentine, #e"ent " and ena"el /#o"ple- #o"posite odonto"e2& The' lie )ithin the alveol s, f!e( entl' inhi%itin$ the e! ption of the adCa#ent teeth and a!e en#aps lated& The "ost #o""on site is the p!e"ola! !e$ion of the "andi%le& 3donto"es a!e, in effe#t, ha"a!to"as& 3n#e fo!"ed the' do not in#!ease in si,e& 3##asionall' the' %e#o"e infe#ted& Develop"ental dist !%an#es in the st! #t !e of theteeth The ena"el of p!i"a!' and se#onda!' dentition "a' %e affe#ted %' a n "%e! of $eneti# o! #on$enital #onditions& The!e "a' %e effe#ts d e to lo#al p!o%le"s s #h as t!a "a d !in$ %i!th o! infe#tion& The "ost nota%le #han$e affe#tin$ all teeth is the !es lt of a"elo$enesis i"pe!fe#ta )hi#h is $eneti# and "a' %e do"inant o! !e#essive& It is an e#tode!"al dist !%an#e and the ano"alies #an !an$e f!o" pits in the teeth to fail !e of ena"el develop"ent& It "a' %e asso#iated )ith osteo$enesis i"pe!fe#ta& D' #ont!ast, dentino$enesis i"pe!fe#ta affe#ts the "esode!"al po!tion of the odonto$eni# appa!at s& The appea!an#e of the teeth is va!ia%le )ith the poo!l' s ppo!ted ena"el ta5in$ on a opales#ent tin$e& The ena"el is !eadil' da"a$ed& Doth a"elo$enesis and dentino$enesis i"pe!fe#ta !es lt in !apid ea!l' tooth loss& "donto enic cysts and tumours A%no!"alities in the dental la"ina "a' fo!" %eni$n #'sts and odonto$eni# ! "o !s /5e!ato#'st, odonto$eni# "'-o"a2& A "ali$nant fo!", a"elo%lasto"a, is va!ia%le %et)een #'sti# and solid, and is lo#all' invasive& The "ost #o""on site fo! these to o## ! is in the thi!d "ola! !e$ion and !a" s of the "andi%le& Con$enital and develop"ental a%no!"alities of the $ "s Con$enital ep lis of the ne)%o!n This n#o""on t "o ! is seen in the ante!io! "andi%le and #an !ea#h a !elativel' la!$e si,e& It is ped n# lated and "o%ile, and #an #a se e-t!e"e #on#e!n to pa!ents& It is si"ple to !e"ove and has no lon$<te!" #onse( en#es& P!ede#id o s teeth At %i!th, o! sho!tl' afte!)a!ds, ha!d tooth<li5e st! #t !es "a' %e dete#ted in the lo)e! alveol s and #an #a se the "othe! #onside!a%le dis#o"fo!t d !in$ %!eastfeedin$& These do not !ep!esent p!i"a!' dentition o! Ba thi!d set of teeth? as& the st! #t !es, altho $h #al#ified, do not ta5e the fo!" of no!"al teeth& Si"ple !e"oval is advised )he!e %!eastfeedin$ is nde!ta5en& @ !the! !eadin$ De!$land, +&, Se"%, >& and A%'hoi", @& /0EA.2 Eli"ination of the !esid al alveola! #left %' se#onda!' %one $!aftin$ and s %se( ent o!thodonti# t!eat"ent& Cleft Palate: C!anio fa#ial Jo !nal, 6*, 074&

H!iens, +& /0EE+2 Do# "entation of #left lip, alveol s and palate& In Mana$e"ent of Cleft Lip and Palate /eds J& Da!da#h and H&L& Mo!!is2, WD& Sa nde!s, Philadelphia, PA, p& 067& Ma!5 s, A&@& and Delai!e, J& /0EE*2 @ n#tional p!i"a!' #los !e of #left lip& D!itish Jo !nal of 3!al Ma-illo fa#ial S !$e!', *0,6A0& Ma!5 s, A&@&, S"ith, WP and Delai!e, J& /0EE*2 P!i"a!' #los !e of #left palate1 a f n#tional app!oa#h& D!itish Jo !nal of 3!al Ma-illofa#ial S !$e!', *0, 70& Ni#ola , P& /0EA*2 The o!%i# la!is otis " s#le1 a f n#tional app!oa#h to its !epai! in the #left lip& D!itish Jo !nal of Plasti# S !$e!', *., 0=&