mandibulofacial dysostosis ( treacher-collins … dysostosis ( treacher-collins syndrome): case...
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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 ,](https://reader031.vdocuments.us/reader031/viewer/2022021719/5bab9c1b09d3f24b638c1fa6/html5/thumbnails/1.jpg)
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