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Mandibulofacial dysostosis ( Treacher-Collins Syndrome): case report Migda M 1,2 , Paluszyński J 1 , Dziekońska-Marciniak I 1 , Tomczak-Warchoł M 1 , Migda MS 2 , Maleńczyk M 1 1 Clinical Unit of Obstetrics, Women’s Disease and Gynecological Oncology, United District Hospital, Collegium Medicum University of Nicolaus Copernicus in Toruń, Poland , 2 Civis Vita Medical Center Toruń, Poland Treacher Collins syndrome (TCS) otherwise known as mandibulofacial dysostosis is a congenital disorder of craniofacial development that occurs with an incidence of 1 in 50,000 live births. This syndrome may appear under different clinical types. AnWmongoloid palpebral fissures, malar hypoplasia, mandibular hypoplasia, malformaWon of auricular pinna, coloboma of the lower eyelids, conducWve deafness, and cleY palate are among the most frequent clinical presentaWons. IntroducWon Figr.1 Fetal profile Figr.2 CleY palate Case report 29 year old primigravida, Was admi]ed to our Unit due to polihydramion. PaWent was diagnosed with Treacher-Collins syndrome. Her twin sister also suffered from this syndrome. PaWent developer gestaWonal diabetes mellitus G2. Ultrasound findings were micrognathia, anWmongoloid palpebral fissures and cleY palate. At 38wks of gestaWon cesarean secWon was performed. We delivered baby boy 2530g, 8 point Apgar. Postpartum examinaWon confirmed prenatal diagnosis. AddiWonal findings were: triangular face, nasal dysmorphy, auricular hypoplasia. Discussion Treacher Collins syndrome exhibits autosomal dominant inheritance with variable penetrance. Many features of the disease can be improved by surgery and other supporWve treatments. A well- planned treatment can produce excellent results for complete restoraWon of the form and funcWon of the paWent

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