mandibulofacial dysostosis ( treacher-collins … dysostosis ( treacher-collins syndrome): case...
TRANSCRIPT
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