Download pdf - Mandibulofacial dysostosis ( Treacher-Collins … dysostosis ( Treacher-Collins Syndrome): case report Migda M1,2, Paluszyński J 1, Dziekońska-Marciniak I1, Tomczak-Warchoł M ,

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Page 1: Mandibulofacial dysostosis ( Treacher-Collins … dysostosis ( Treacher-Collins Syndrome): case report Migda M1,2, Paluszyński J 1, Dziekońska-Marciniak I1, Tomczak-Warchoł M ,

Mandibulofacialdysostosis(Treacher-CollinsSyndrome):casereportMigdaM1,2,PaluszyńskiJ1,Dziekońska-MarciniakI1,Tomczak-WarchołM1,MigdaMS2,MaleńczykM11ClinicalUnitofObstetrics,Women’sDiseaseandGynecologicalOncology,UnitedDistrictHospital,CollegiumMedicumUniversityofNicolausCopernicusinToruń,Poland,2CivisVitaMedicalCenterToruń,Poland

TreacherCollinssyndrome(TCS)otherwiseknownasmandibulofacialdysostosisisacongenitaldisorderofcraniofacialdevelopmentthatoccurswithanincidenceof1in50,000livebirths.Thissyndromemayappearunderdifferentclinicaltypes.AnWmongoloidpalpebralfissures,malarhypoplasia,mandibularhypoplasia,malformaWonofauricularpinna,colobomaofthelowereyelids,conducWvedeafness,andcleYpalateareamongthemostfrequentclinicalpresentaWons.

IntroducWon

Figr.1Fetalprofile

Figr.2CleYpalate

Casereport

29yearoldprimigravida,Wasadmi]edtoourUnitduetopolihydramion.PaWentwasdiagnosedwithTreacher-Collinssyndrome.Hertwinsisteralsosufferedfromthissyndrome.PaWentdevelopergestaWonaldiabetesmellitusG2.Ultrasoundfindingsweremicrognathia,anWmongoloidpalpebralfissuresandcleYpalate.At38wksofgestaWoncesareansecWonwasperformed.Wedeliveredbabyboy2530g,8pointApgar.PostpartumexaminaWonconfirmedprenataldiagnosis.AddiWonalfindingswere:triangularface,nasaldysmorphy,auricularhypoplasia.

DiscussionTreacherCollinssyndromeexhibitsautosomaldominantinheritancewithvariablepenetrance.ManyfeaturesofthediseasecanbeimprovedbysurgeryandothersupporWvetreatments.Awell-plannedtreatmentcanproduceexcellentresultsforcompleterestoraWonoftheformandfuncWonofthepaWent

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