Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population

BrazJOtorhinolaryngol.2018;84(6):687---690

www.bjorl.org

Brazilian

Journal

of

OTORHINOLARYNGOLOGY

ORIGINAL

ARTICLE

Incidence

of

bifid

uvula

and

its

relationship

to

submucous

cleft

palate

and

a

family

history

of

oral

cleft

in

the

Brazilian

population

夽

Sizina

Aguiar

G.

Sales

_,

_Maria

_Luiza

_Santos

_,

_Renato

_Assis

_Machado

_,

Verônica

Oliveira

Dias

_,

_Jairo

_Evangelista

_Nascimento

_,

_Mario

_Sérgio

_Oliveira

_Swerts

_,

Hercílio

Martelli

Júnior

_,

_Daniella

_Reis

_Barbosa

_Martelli

a_{UniversidadeEstadualdeMontesClaros(Unimontes),FaculdadedeMedicina,MontesClaros,MG,Brazil}

b_{UniversidadeEstadualdeMontesClaros(Unimontes),ProgramadePós-graduac¸ãoemCuidadoPrimárioemSaúde,Montes}

Claros,MG,Brazil

c_{UniversidadeEstadualdeMontesClaros(Unimontes),FaculdadedeOdontologia,MontesClaros,MG,Brazil}

d_{UniversidadeEstadualdeCampinas(Unicamp),FaculdadedeOdontologiadePiracicaba,DepartamentodeDiagnósticoOral,}

Piracicaba,SP,Brazil

e_{UniversidadedeJoséRosárioVellano,FaculdadedeOdontologia,CentrodeReabilitac¸ãodeAnomaliasCraniofaciais,Alfenas,}

MG,Brazil

Received28May2017;accepted1August2017 Availableonline24August2017

KEYWORDS Bifiduvula; Submucosalcleft palate; Cleftlip; Cleftpalate; Children Abstract

Introduction:Bifiduvulaisafrequentlyobservedanomalyinthegeneralpopulationandcan beregardedasamarkerforsubmucouscleftpalate.

Objective: Inthisstudyaimedtodeterminethefrequencyofbifiduvulaandsubmucouscleft palateandtheirrelationshipwithoralcleftsinaBrazilianpopulation.

Methods:We conducted a transversal, descriptive and quantitative study of 1206 children betweenAugust2014andDecember2015.Aclinicalexaminationofthechildrenwasconducted bymeansofinspectionoftheoralcavitywiththeaidofatonguedepressoranddirectedlight. After theclinicalexaminationinchildren,parentsanswered aquestionnairewith questions aboutbasicdemographicinformationandtheirfamilyhistoryoforalcleftsintheirfirst-degree relatives.Afterapplicationofthequestionnaires,theinformationcollectedwasarchivedina databaseandanalyzedbythestatisticalprogramSPSS® version19.0,byapplyingChi-Square tests.Valueswithp<0.05wereconsideredstatisticallysignificant.

夽 _{Pleasecitethisarticleas:SalesSA,SantosML,MachadoRA,DiasVO,NascimentoJE,SwertsMS,etal.Incidenceofbifiduvulaandits} relationshiptosubmucouscleftpalateandafamilyhistoryoforalcleftintheBrazilianpopulation.BrazJOtorhinolaryngol.2018;84:687---90.

∗_{Correspondingauthor.}

E-mail:sizinasales@hotmail.com(S.A.Sales).

PeerReviewundertheresponsibilityofAssociac¸ãoBrasileiradeOtorrinolaringologiaeCirurgiaCérvico-Facial.

https://doi.org/10.1016/j.bjorl.2017.08.004

1808-8694/©2017Associac¸˜aoBrasileiradeOtorrinolaringologiaeCirurgiaC´ervico-Facial.PublishedbyElsevierEditoraLtda.Thisisanopen accessarticleundertheCCBYlicense(http://creativecommons.org/licenses/by/4.0/).

688 SalesSAetal.

Results:Ofthe1206childrenincludedinthisstudy,608(50.40%)werefemaleand598(49.60%) weremale(p=0.773).Theaverageageofchildrenwas3.75years(standarddeviation_±3.78 years). Ofthe 1206childrenstudied, 6(0.5%) presentedwith bifiduvula. Submucosalcleft palatewasnotfoundinanychild.Whenthefamilyhistoriesofchildrenwereexaminedforthe presenceofnonsyndromiccleftlipand/orcleftpalate,nofirstdegreerelativespresentedwith thecongenitalanomaly.

Conclusion:Thisstudyrevealedthattheincidenceofbifiduvulaandsubmucouscleftpalatein thispopulationwasquitesimilartopreviouslyreportedincidencerates.Ourstudysuggestsan intensificationofnewreviews,withbroaderanddiversepopulations,seekingtoassociatethe occurrenceofbifiduvula,submucouscleftpalateandoralclefts.

© 2017 Associac¸˜ao Brasileira de Otorrinolaringologia e Cirurgia C´ervico-Facial. Published by Elsevier Editora Ltda. This is an open access article under the CC BY license (http://

creativecommons.org/licenses/by/4.0/). PALAVRAS-CHAVE Úvulabífida; Fissurapalatina submucosa; Fissuralabial; Fissurapalatina; Crianc¸as

Incidênciadeúvulabífidanapopulac¸ãobrasileiraesuarelac¸ãocomfissurapalatina submucosaehistóriafamiliardefissuraoral

Resumo

Introduc¸ão:Aúvulabífidaéumaanomaliafrequentementeobservadanapopulac¸ãoemgeral epodeserconsideradacomoummarcadordefissurapalatinasubmucosa.

Objetivo:Determinarafrequênciadeúvulabífidaefissurapalatinasubmucosaesuarelac¸ão comfissuraoraisemumapopulac¸ãobrasileira.

Método: Realizamosumestudotransversal,descritivoequantitativode1.206crianc¸asentre agostode2014edezembrode2015.Oexameclínicodascrianc¸asfoirealizadopormeioda inspec¸ãoda cavidade oral comauxílio de um abaixadorde língua e luzdirecionada. Após oexame clínico nas crianc¸as,os paisresponderam aum questionáriocomperguntas sobre informac¸õesdemográficasbásicaseantecedentesdefendas oraisemfamiliaresdeprimeiro grau.Asinformac¸õescoletadasforamarquivadasemumbancodedadoseanalisadaspelo pro-gramaestatísticoSPSS®versão19.0,aplicandotestesdeQui-Quadrado.Osvalorescomp<0,05 foramconsideradosestatisticamentesignificativos.

Resultados: Das1.206crianc¸asincluídasnesteestudo,608(50,40%)eramdogênerofeminino e598(49,60%)domasculino(p=0,773).Aidademédiadascrianc¸asfoide3,75anos (desvio-padrão±3,78anos).Das1.206crianc¸asestudadas,seis(0,5%)apresentavamúvulabífida. A fissurapalatinasubmucosanãofoiencontradaemnenhumacrianc¸a.Quandoashistórias famil-iares decrianc¸asforam examinadasquanto àpresenc¸a de fissurade lábioe/ou palato não sindrômica,nenhumparentedeprimeirograuapresentavaestaanomaliacongênita.

Conclusão:Esteestudorevelouqueaincidênciadeúvulabífidaefissurapalatinasubmucosa nestapopulac¸ãoébastantesemelhanteàstaxasdeincidênciapreviamenterelatadas.Nosso estudosugereumaintensificac¸ãodenovasrevisões,compopulac¸õesmaisamplasediversas, buscandoassociaraocorrênciadeúvulabífida,fissurapalatinasubmucosaefissuraorais. © 2017 Associac¸˜ao Brasileira de Otorrinolaringologia e Cirurgia C´ervico-Facial. Publicado por Elsevier Editora Ltda. Este ´e um artigo Open Access sob uma licenc¸a CC BY (http://

creativecommons.org/licenses/by/4.0/).

Introduction

Bifiduvulaisafrequentlyobservedanomalyinthegeneral population.1_{Itsincidencevariesaccordingtoracialgroups.}2

TheincidenceishigherinIndiansandMongols, averagein Caucasiansandlessfrequentinblacks.2,3_{Bifiduvulaisoften}

regardedasamarkerfor submucouscleft palatealthough thisrelationshiphasnotbeen fullyconfirmed.1,4 _{The bifid}

uvulahasthus servedasatoolforclinicianstodetectthe earliestsignsoforalcleft.4

Submucous cleft palate is a congenital malformation withspecific clinical featuresthatwerefirst describedby

Calnan and are known as ‘‘Calnan’s triad’’.5 _The

diag-nostic signsof Calnan’s triad arebifiduvula, midline soft palate muscle separation withan intactmucosal surface, and a midline posterior bony palate-notching defect.6 _It

hasanestimatedprevalenceof1:1250---1:5000.7_TheOMIM

databaseofMendeliandisorderslistssubmucouscleftpalate asaclinicalfindinginapproximately40distinctsyndromes. Yet,inapproximately70%ofcases,submucouscleftpalate isanisolatedfinding.8

Nonsyndromiccleftlipand/orcleftpalate(NSCL/P,OMIM #119530)isthemostcommonorofacialbirthdefect, occur-ring in 1 in 500---2500 live births worldwide.9 _{In Brazil,}

Incidenceofbifiduvulaanditsrelationshipwithsubmucouscleftpalate 689 the prevalence varies from 0.36 and 1.54 per 1000 live

births.10,11_{NSCL/Piscausedbyacomplexinterplaybetween}

environmental exposures and genetic and epigenetic fac-tors.Althoughinthepastdecademultiplegeneticvariants have been associated with oral clefts, providing valuable insightsintoitsgeneticetiology,thedisease-susceptibility genesidentifiedsofaronlyaccountforasmallpercentage ofcases.9,12

Therefore,theaimofthecurrentstudywastodetermine thefrequencyofbifiduvulaandsubmucouscleftpalateand theirrelationshipwithoralcleftsinaBrazilianpopulation.

Methods

After proper approval of the Ethics Committee (no. 957.462), Institutional Review Board, we conducted a transversal,descriptiveandquantitativestudyof1206 chil-drenbetweenAugust2014andDecember2015.Thechildren wereassessedinprimaryorambulatorialunitsofhealth.All units are Public Health Network Brazilian (Unified Health System). Allof the study subjects wereborn in the same region of the Minas Gerais State, Brazil, and had similar socialconditions.

Aclinicalexaminationofthechildrenwasconductedby means of inspection of the oral cavity with the aid of a tonguedepressoranddirectedlight.Theuseoflightthrough thelanternallowedadirectviewinfrontoftheexaminer (SAGS).Theexaminationoftheoralcavityaimedtoverify thepresenceofabifiduvulaorsubmucosalcleftpalate.

After the clinical examination in children, parents answeredaquestionnairewithquestionsaboutbasic demo-graphicinformationandtheirfamilyhistoryoforalcleftsin their first-degreerelatives (mother,father, son, daughter, andsiblings).13_{Noparentdeclinedtorespondthe}

question-naire.The questionnaireswereappliedinasinglesession, alwaysaftertheclinicalexaminationofchildren.Children withcongenitalanomaliesorsyndromeswereexcludedfrom thestudy.Thiswasinitiallyperformedasapilotstudy.

Theoralcleftswerecategorized,whenpresent,intothe followingthreegroups,withtheincisiveforamenasa ref-erence:1)cleft lip(CL):includes completeor incomplete pre-foramen clefts, either unilateral or bilateral; 2)cleft lipandpalate(CLP):includesunilateral orbilateral trans-foramencleftsandpre-orpost-foramenclefts;and3)cleft palate(CP):includesallpost-foramenclefts,complete,or incomplete.14

After application of the questionnaires, the informa-tion collected were archived in a database and analyzed bythe statisticalprogram SPSS® version19.0, byapplying Chi-squaretests.Valueswithp<0.05wereconsidered sta-tisticallysignificant.

Results

Of the 1206 children included in this study,608 (50.40%) werefemale and598 (49.60%)were male(p=0.773).The average age was 3.75 years (SD±3.78 years). There was a prevalence of non-Caucasians (764---63.3%) versus Cau-casians(442---36.7%).

Of the 1206 children studied, 6 (0.5%) presented with bifiduvula. Submucosalcleft palate wasnotfound in any

child. When the family histories of children were exam-inedfor the presence of NSCL/P,nofirst-degree relatives presentedwiththecongenitalanomaly.

Discussion

and

conclusion

Theancestry ofindividual inhabitants ofthe MinasGerais statewithoralcleftshadbeenpreviouslyinvestigated.15,16

The average ancestry contributions to patients with oral cleftswereestimatedas87.5%European,10.7%African,and 1.8%Amerindian.15

The term bifiduvula means the partial or full bifurca-tionoftheuvula.Theoccurrenceofbifiduvulahasaroused interestbecauseofthepossibilityofbeingconsideredamild formof cleft palate or being associated withsubmucosal cleftpalate.4,17 _{Discoveringbifidity oftheuvula,however,}

maynotbe assimpleasit first appears.Mucousviscosity canholdanotchedorgrosslybifiduvulatogether,making bifidityquitedifficulttoidentifybyroutineoropharyngeal exam.Mucousviscositycanalsopreventtheidentificationof theseanomaliesintraoperatively,evenaftercareful inspec-tionandpalpation.4

Bifid uvula is apparent in 0.44%---3.3% of normal individuals.1,18 _{Of 1206 children examined in the present}

study, 6 (0.49%) presented with bifid uvula. As several studies19---21 _{showed a higher incidence of cleft palate in}

females, it is possible to assume a higher prevalence of bifiduvulain females aswell. However,inour studyof 6 casesofbifiduvulafound,mostoccurredinmales(5vs.1). Studies conductedby our group in the same State(Minas Gerais,Brazil), showeda predominance ofcleft palate in females.21,22 _{There arealso other studies}18,23,24 _{that have}

shownahigheroccurrenceofuvulabifidainmalesin agree-mentwithourstudy.

Similartoother casesofcleftpalate, submucosalcleft palateshowsmalpositioningofthepalatemusclesandmay result in velopharyngeal insufficiency and hypernasality.6

However,submucosalcleftpalateismoredifficultto diag-nosethanother casesofcleft palate,inpartbecausethe softandhardpalatesshownogapandonlytheuvulaisbifid.6

Thisisinaccordancewithpreviouslyreportedresultsthat submucosalcleftpalateisoftendiagnosedlate.25,26_One

rea-sonforlatediagnosismaybealackofalertnessforobvious anatomicalfeatures ofan underlyinginvisiblecleft ofthe palate.25,26 _{During intra-oral examination, more than 90%}

ofthepatientsshowedabifiduvula,whichwasassociated withsubmucosalcleft palate. This visualanatomical vari-ation,however, remained undetected during screening of newbornsafterbirth.27_{Although,thepresenceofbifiduvula}

isconstantfortheoccurrenceofsubmucouscleftpalate,in ourstudy,of1206childrenevaluated,nocasesofsubmucous cleftpalatewerefound.

Although there has been marked progress in identify-ingthe environmental and geneticrisk factors associated withoralclefts,itsetiologyinmostcasesremainsunclear.9

Studieshavesoughttocorrelate severalchangeswithoral clefts.28_{Theoccurrenceofmalignantneoplasmsinrelatives}

ofpatientswithoral clefts13,28_{anddentalanomalies}29 _has

been reportedin patients withoral clefts.In the present study,wecouldnotidentifyanycasesoforalcleftsin rela-tivesofchildrenwithbifiduvula.

690 SalesSAetal. Although children with bifid uvula may have changes

inspeech,hearingand swallowing,ofthe 6children with bifiduvulauncoveredinourstudy,thesechangeswerenot observed.Alloftheirparentsweretoldofthepresenceof theuvulabifidaintheirchildren.The cooperationof doc-torssuchaspediatriciansandotorhinolaryngologistswhoare incontactwithseveralinfantsandyoungchildren,willbe vitalfortheidentificationofbifiduvula.Childreninwhom bifiduvulaisevidentuponoralexaminationduringregular healthcheckupsshouldbeexaminedbyaspecialist.6_Here,

theimportantinteractionsbetweenvarioushealth profes-sionals,includingdoctorsanddentists,areclearlyvisible.

Insummary,thisstudyrevealedthat0.5%ofpatientswith oralcleft showedbifiduvula inaBrazilian population.No patientpresentedsubmucouscleftpalateandnofirstdegree relativeshad congenitalanomaly. Ourstudy suggeststhat anintensificationofnewreviews,withbroaderanddiverse populations, seeking to associate the occurrence of bifid uvula,submucouscleftpalateandoralclefts,isneeded.

Conflicts

of

interest

Theauthorsdeclarenoconflictsofinterest.

Acknowledgments

This work was supported by grants from The State of Minas Gerais ResearchFoundation-FAPEMIG, Minas Gerais, BrazilandtheNationalCouncilforScientificand Technolog-ical Development-CNPq, Procad/Casadinho-CNPq/CAPES, Brasília,Brazil.

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