Mandibulofacial dysostosis ( Treacher-Collins dysostosis ( Treacher-Collins Syndrome): case report Migda

Mandibulofacial dysostosis ( Treacher-Collins dysostosis ( Treacher-Collins Syndrome): case report Migda

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  • Mandibulofacialdysostosis(Treacher-CollinsSyndrome):casereportMigdaM1,2,PaluszyskiJ1,Dziekoska-MarciniakI1,Tomczak-WarchoM1,MigdaMS2,MaleczykM11ClinicalUnitofObstetrics,WomensDiseaseandGynecologicalOncology,UnitedDistrictHospital,CollegiumMedicumUniversityofNicolausCopernicusinToru,Poland,2CivisVitaMedicalCenterToru,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