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Congenital syngnathia: a case report
Chul-Hwan Kim, Moon-Young Kim
Department of Oral and Maxillofacial Surgery, College of Dentistry, Dankook University, Cheonan, Korea
Abstract (J Korean Assoc Oral Maxillofac Surg 2012;38:171-6)
Congenital syngnathia refers to the fusion of bony tissues, a rare disorder with only 41 cases reported in the international literature from 1936 to 2009. The occurrence of syngnathia without any other associated systemic disease or congenital anomaly is extremely rare. This report presents a case of congenital syngnathia with unilateral maxillomandibular bony adhesion without any other oral or maxillofacial anomaly. No recommended protocol for surgery exists due to the rarity of the disorder. There is a very low survival rate for the few patients who have forgone surgical management. This case describes a 74-year-old female patient who was suffering from limitation of mouth opening and was subsequently diagnosed with congenital syngnathia. The surgical staff performed separation surgery and reconstructed the malformed oral vestibule and cheek using the radial forearm free flap operation.
Key words: Jaw abnormalities, Synostosis, Congenital[paper submitted 2011. 8. 19 / revised 2011. 10. 10 / accepted 2011. 10. 12]
treatmentoutcomehavingnocomplicationand refusion
togetherwithareviewofliterature.
II. Case Report
A74-year-old femalepatientwithchiefcomplaintof
fusionoftheleftjawscametotheDepartmentofOraland
I. Introduction
Congenitalfusionofthejawsisaconditionthatcannot
openthemouthatbirthandthebonyfusioncomposedof
oralmucosaormaxillaandmandible.Casesofcongenital
synechiaewithsoft tissuehavebeengenerallyreportedin
literature,butcongenitalsyngnathiawithhardtissueisrare.
Itwasfirst reported in1936,withonly41casesreported
until20091.Inparticular,congenitalsyngnathiathatisnot
associatedwithsystemicsyndromeormaxillofacialdefect
is rarely found in literature.Sincecongenitalsyngnathia
causes,dyspnea,difficulty inoral feeding,andabnormal
growthof the jawsand face,early surgical treatment is
necessary.However,thatnostandardtreatmentforcongenital
syngnathiaisestablishedbecausetheprevalencerateislow
andfewpatients livewithoutsurgical treatment.For the
patientdiagnosedwithcongenitalsyngnathiaas featured
inthisreport,weperformedseparativesurgeryandradial
forearmfreeflapoperation.Wepresentareportonthegood
Chul-Hwan KimDepartment of Oral and Maxillofacial Surgery, School of Dentistry, Dankook University, 119 Dan-daero, Dongnam-gu, Cheonan 330-714, KoreaTEL: +82-41-550-1996 FAX: +82-41-551-8988E-mail: [email protected]
This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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CASE REPORThttp://dx.doi.org/10.5125/jkaoms.2012.38.3.171
pISSN 2234-7550·eISSN 2234-5930
Fig. 1. 74-year-old woman with facial asymmetry due to left mandibular hypoplasia resulting in the fusion of the left maxillo-mandibular alveolar ridge.Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxil-lofac Surg 2012
J Korean Assoc Oral Maxillofac Surg 2012;38:171-6
172
years.Shehasnofamilyhistoryofsuchfusion.Theclinical
findingsrevealedfusioninthegingivaareaequivalenttothe
leftedentulousalveolarridgeofthemaxillaandmandible
andnobuccalvestibuleasaresultofperfectfusioninthe
buccalgingivalarea.(Fig.2)Therewasnotoothintheoral
cavity,andshehadneverexperiencedtoothextraction.There
was facialasymmetrydue to leftmandibulardeficiency
causedbysyngnathia.Themaximummouthopeningshowed
0mmin thesymphysisof the jaws,andanymandibular
movementinalldirectionswasimpossible.Thepanoramic
radiographshowedfusionoftheleftedentulousalveolarridge
(Fig.3),andthefacial3dimensionimageacquiredthrough
acomputedtomographyscanwasusedtoobservethebony
fusionof the leftedentulousalveolarridge.(Fig.4)There
wasneitheradhesionofboth temporomandibular joints
(TMJs)norcoronoidprocesshyperplasia.(Fig.5)Moreover,
the imagefromthebonescan(99mTc-MDP;SymbiaE,
Siemens,Germany)revealeda findingofhotspot in the
MaxillofacialSurgery,DankookUniversityHospitalon9th,
March,2011.(Fig.1)Thepatienthasneitheropenedher
mouthnorchewedsincebirth, takinginliquiddietfor74
Fig. 2. Adhesion of the left commissural and retrocommissural oral cheek to the fused arches on the left side, which continued posteriorly as complete adhesion of the buccal mucosa to the slopes of the upper and lower arches, resulting in the absence of the buccal vestibule.Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxil-lofac Surg 2012
Fig. 3. Panoramic view showing left mandibular ramus hypoplasia resulting in the unilateral bony fusion of the left maxillary-mandibular alveolar ridges.Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxil-lofac Surg 2012
Fig. 5. Computerized 3 dimension recon struction of the skull. A. There was neither temporomandibular joint (TMJ) ankylosis nor coronoid process hyper plasia in the right skull. B. There was no TMJ ankylosis, but coronoid process hyperplasia was noted on the left side.Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxillofac Surg 2012
Fig. 4. A computerized 3 dimension reconstruction of the skull showed the bony fusion of the alveolar crest of the maxilla and mandible.Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxil-lofac Surg 2012
Congenital syngnathia: a case report
173
thesurgery.(Figs.7-9)Before thesurgery,weconducted
theAllen's test forbloodcirculationcompatibility and
microvascularanastomosistoconnecttheradialarteryand
venacomitantsintheradialforearmfreeflaptothebranches
of the facialarteryand internal jugularvein.Asa result
ofcontinuousmouthopeningmovement7daysafter the
surgery,themaximummouthopeningwas45mmfromthe
symphysisofthejaws.Tocontrolthesizeofthetransplanted
flap,flapde-bulkingoperationwasperformedon8th,Julyof
affectedalveolarbone.(Fig.6)
OnMarch16ofthesameyear,sinceitwasimpossibleto
performnormalintubationforgeneralanesthesia,fiber-optic
intubationusingendoscopywasdonetoperformseparative
surgeryandreconstructedtherightbuccalmucosaandoral
vestibule.Suchreconstructivesurgery includedextension
of lipsplit incision,separativesurgeryof themaxillaand
mandibleaftercollar incision,detachmentof theaffected
temporalismuscle,coronoidectomyandradialforearmfree
flapoperation to lead tomouthopeningmovementafter
Fig. 6. The bone scan (99mTc-MDP) revealed a hot spot in the left maxillo-mandibular bony fusion area.Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxil-lofac Surg 2012
Fig. 7. Surgical incision. The incision line was lip-split and extended to apron flap incision.Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxil-lofac Surg 2012
Fig. 8. The maxillo-mandibular fusion area is separated by a saw, and left coronoidectomy was done to favor mouth opening training.Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxil-lofac Surg 2012
Fig. 9. Radial forearm free flap was inserted for the reconstruction of the buccal cheek mucosa.Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxil-lofac Surg 2012
J Korean Assoc Oral Maxillofac Surg 2012;38:171-6
174
calledsynechiae,whereasfusionbyosseoustissueiscalled
syngnathia.Synechiaehasbeen reportedextensively in
literatures,anditstreatmentissimpleratherthancomplicated.
However,syngnathiaisararerdeformitythanfusionbysoft
tissue;unilateralbonyfusioninthejawshasbeenreported
evenmorerarely1.Mostcasesofcongenitalsyngnathiaare
additionallyaccompaniedbycongenitaldefects suchas
cleftlip,cleftpalate,microglossia,micrognathism,andTMJ
disease1.(Table1)Inparticular,cleftpalateismostcommon.
Atleast41casesofcongenitalsyngnathiahadbeenreported
until2009since thefirstcasewasreportedbyBurket2 in
1936,whereasonly18casesofcongenitalsyngnathiawithno
additionalcongenitaldefectorsyndromehadbeenreported
until20091.Somescholarsclassifiedthepatientconditions,
suchastheclassificationofDawsonetal.3,andclassification
ofLasteretal.4asamodifiedclassification.(Tables2,3)The
patientinthiscaseisType1undertheclassificationofDawson
etal.3andType1aundertheclassificationofLasteretal.4.
Theetiologicfactorofcongenitalbonysyngnathiahasyet
thesameyearunderoralintubationandgeneralanesthesia.
(Fig.10)Now,6monthsafter thesurgery, themaximum
openingwas45mmfromthesymphysisofthejaws.
III. Discussion
Thefusiondefectofthemaxilla/mandibleinthejawbones
ororalmucosaisanextremelyraremaxillofacialdeformity.
Suchdeformity iscalledvariousmedical termsincluding
congenitalfusionofthejawsorgums,zygomaticomandibular
fusion, intraoralband, intra-alveolarsynechiae,congenital
bony syngnathia, andmandibulomaxillary synostosis1.
Fusionby thesoft tissuesof themaxillaandmandible is
Table 1. Congenital anomalies associated with syngnathia
CleftlipCleftpalateCleftmandibleObliquefacialcleftMandibularhypoplasiaHemifacialmicrosomiaGlossopalatineankylosisMicroglossiaCongenitalamputationofarmsandlegsColobomaScoliosisHorner’ssyndromeVanderwoudesyndrome
Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxil-lofac Surg 2012
Table 2. Classification of Dawson et al.3
Type1Type2aType2b
SimplesyngnathiaComplexsyngnathiaComplexsyngnathia
NootheranomaliesintheheadandneckSyngnathiacoexistentwithaglossiaSyngnathiacoexistentwithagenesisorhypoplasiaofproximalmandible
Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxillofac Surg 2012
Table 3. Classification of Laster et al.4
Type1a
Type1a
Type2a
Type2b
Simpleanteriorsyngnathia
Complexanteriorsyngnathia
Simplezygomatico-mandibularsyngnathia
Complexzygomatico-mandibularsyngnathia
Bonyfusionofthealveolarridgeonlyandwithoutothercongenitaldeformityintheheadandneck
Bonyfusionof thealveolar ridgesonlyandassociatedwithothercongenitaldeformityintheheadandneck
Bonyfusionofthemandibletothezygomaticcomplexcausingonlymandibularmicrognathia
Bonyfusionofthemandibletothezygomaticcomplexandassociatedwithcleftsortemporomandibularjointankylosis
Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxillofac Surg 2012
Fig. 10. Debulking procedure for the reduction of volume of excessive radial forearm free flap during the second operation. Mouth opening of 45 mm was achieved.Chul-Hwan Kim et al: Congenital syngnathia: a case report. J Korean Assoc Oral Maxil-lofac Surg 2012
Congenital syngnathia: a case report
175
wasdonesimultaneouslywiththeseparationofthemaxilla
and themandible.Profusebleedingoccurredduring the
operationinthebloodvesselsaroundthebaseoftheskull,
andthecausewasthoughttobevenousruptureduetothe
excessiveextensionoftheveinconnectedtothebaseofthe
skullwhen themouthwasopenedafter theseparationof
themandibularbone.Therefore,notifyingthepatientand
caregiverwellaheadofthesurgeryofthepossibilityofblood
transfusionagainstexcessivebleedingduringtheoperationis
recommended,includingperformingmouthopeningcarefully
topreventexcessivebleedingduringtheoperation.Toavoid
recurrencecausedbytherefusionofsofttissue,ankylosisof
theTMJ,andatrophyofmasticatorymuscleafterthesurgery,
mouthopeningtrainingwasdone7daysaftertheoperation.
Choietal.14maintained in their research that,asmouth
openingcanbereducedduetoatrophyof themasticatory
muscleafter the surgerydespiteenoughbuccalmucosa
whenusingradialforearmfreeflap,continuousmonitoring
ofmouthopeningandphysical treatmentarerequired.In
thiscase, thepatientshowedsuccessfulopening4months
after thesurgery;however,sincethesizeoffreeflapwas
somewhatexcessive,secondaryflapreductionoperationwas
performed.
Inconclusion,wecouldsecureenoughmouthopeningfor
thepatientwithcongenitalsyngnathiaanddrawaneffective
resultwithoutanyrefusionafterthesurgery.However,case
reportsonpatientsundergoingtheradialforearmfreeflap
operationarerare,andthereisashortageofdiscussionon
comparativestudyofcasesusingotheroperationsother
thantheradialforearmfreeflapoperation.Therefore,more
researchon the refusionpatternandmaintainingmouth
openingincaseoftheradialforearmfreeflapoperationare
deemednecessary.
IV. Conclusion
Totreatapatientwithcongenitalsyngnathiaeffectively,
it is important tosecure theairwayof thepatient,ensure
propernutrition,andsecureenoughmouthopeningwithno
recurrencepattern.Therefore,itisrecommendedtoprevent
anyrecurrenceaftersurgerybyusingtheproperoperation,
includingmaintainingthemouthopeningtopreventankylosis
oftheTMJthroughcontinuousphysicaltherapy.
Forapatientwithcongenitalsyngnathia,wesuccessfully
performedseparativesurgeryandradialforearmfreeflap
andpresentedareportonthesatisfactoryresultwithoutany
complicationsandrecurrence.
toberevealed,butthefollowingcausesareassumed:long-
termsurvivalofbuccopharyngealmembrane,amnioticband
syndrome, incest,drugsduringpregnancy, abnormality
offetalstapedialartery,earlylossofneuralcrestcell,and
injury5-9.AccordingtoNanda,syngnathiaoccurredwithcleft
palate in therabbit injectedwithvitaminA10.Humphrey
maintained that, since theelevationofpalatal shelves is
delayedduetothereducedswallowingreflexofafetusin
theearlystagesofpregnancy, thecontactofpharyngeal
membraneandglossalmembrane in apalate results in
syngnathiatogetherwithcleftpalate11.Lastermaintainedthat
suchdeformityisrelatedtothetimeandperiodofexternal
damageandthatexternaldamageoccurredafterweek12of
pregnancydoesnotcausecleftpalate,micrognathism,fusion
ofzygomaticboneandupperjawboneorfusionofcortical
bones4.Inthepresentcase,therewasnoankylosisofboth
TMJs,buttheovergrowthofleftcoronoidprocesswasnoted.
Nofusionof the leftcoronoidprocess,zygomaticbone,
andupper jawwasobserved,however.Asaresultof left
mandibulardeficiencyduetosyngnathia,theleftmandibular
branchwas1cmshorter thantherightbranch,andfacial
asymmetrywasobserved.
Theimportantpoint in treatingthisdisease is tosecure
theairwayandfeedingthroughnasogastrictubeinsertionat
birth,andthenremovethefusionareabysurgicalprocedure,
administeringactivephysicaltreatmenttopreventrecurrence
inthefuture.Ifpossible,earlysurgeryisrecommendedto
avoid theankylosisofbothTMJsandpreventsecondary
developmentalmaxillofacialdeformitythatmaybecaused
bysyngnathia.
In literatureon the treatmentofcongenitalsyngnathia,
manyauthorsusedapproachessuchastemporo-preauricular
approach,submentalapproach, intraoralapproach3,12,and
suggested interpositional flapusing temporalismuscleor
buccalmucosa,insertionofanimplantsuchassilasticsheets
betweenseparatedsoft tissues toprevent recurrence3,or
physicaltreatmentusingoralapplianceafterthesurgery12,13.
Fusion reportedly recurred inmost casesdespite such
efforts3,8.Recently,Choietal.14reportedacaseofusingradial
forearmfree flap toprevent refusionandsecureproper
mouthopeningafter surgery in theacquiredsyngnathia.
However, thedecreaseofmouthopeningaftersurgeryled
toTMJsurgeryandlipsurgeryusingtemporalismusclein
thesecondarysurgery14.Inthepresentcase,topreventthe
decreaseofmouthopeningafterthesurgery,detachmentof
theaffected temporalismuscleandcoronoidectomywere
additionallyperformed,andradialforearmfreeflapoperation
J Korean Assoc Oral Maxillofac Surg 2012;38:171-6
176
mandibularbonyfusionwithamandibularcleftandabifidtongue.BrJPlastSurg1997;50:139-41.
8. KamataS,SatohK,UemuraT,OnizukaT.Congenitalbilateralzygomatico-mandibularfusionwithmandibularhypoplasia.BrJPlastSurg1996;49:251-3.
9. GoodacreTE,WallaceAF.Congenitalalveolarfusion.BrJPlastSurg1990;43:203-9.
10. NandaR.Maxillomandibularankylosisandcleftpalate in ratembryos.JDentRes1970;49:1086-90.
11. HumphreyT.Therelationbetweenhumanfetalmouthopeningreflexesandclosureofthepalate.AmJAnat1969;125:317-44.
12. SubramanianB,AgrawalK,PandaK.Congenital fusionofthe jaws:amanagementprotocol. Int JOralMaxillofacSurg2010;39:925-9.
13. AgrawalK,ChandraSS,SreekumarNS.Congenitalbilateralinter-maxillarybonyfusion.AnnPlastSurg1993;30:163-6.
14. Choi JY,MinCG,MyoungH,HwangSJ,KimMJ,Lee JH.Acquiredsyngnathia.BrJOralMaxillofacSurg2004;42:448-50.
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