Search results for "Treacher collins"

showing 3 items of 3 documents

Orbital volume and shape in Treacher Collins syndrome

2018

Orbito-palpebral reconstruction is a challenge in Treacher Collins syndrome (TCS). This study investigates orbital phenotypes in TCS using cephalometry and orbital shape analysis. Eighteen TCS and 52 control patients were included in this study, using the Dr Warehouse database. Orbital cephalometry was based on 20 landmarks, 10 planes, 16 angles, and 22 distances. Orbits were segmented. Registration-based, age-specific mean models were generated using semi-automatic segmentation, and aligned and compared using color-coded distance maps - mean absolute distance (MAD), Hausdorff distance (HD), and Dice similarity coefficient (DSC). Symmetry was assessed by mirroring and DSC computing. Central…

AdolescentCephalometryOrbits3D-cephalometryMandibulofacial Dysostosis/diagnostic imaging03 medical and health sciencesYoung Adult0302 clinical medicineImaging Three-DimensionalmedicineJournal ArticleHumansChildRetrospective Studiesbusiness.industryVolumeInfant NewbornInfant030206 dentistryAnatomymedicine.diseaseInfant newbornTreacher collinsTomography x ray computedOtorhinolaryngologyMidface030220 oncology & carcinogenesisChild PreschoolCase-Control StudiesSurgeryOral SurgerybusinessMorphometricsTomography X-Ray ComputedOrbitTreacher Collins syndromeMandibulofacial DysostosisOrbit/diagnostic imaging
researchProduct

Cholesteatoma of the hypotympanum in a patient with Treacher Collins syndrome

2014

In the present article we report a cholesteatoma of the hypotympanum extending to the jugular foramen in a 16-year-old male with Treacher Collins syndrome. Preoperative imaging excluded jugular paraganglioma and set the diagnosis of cholesteatoma. We discuss the operative treatment via a large hypotympanotomy and creation of an open hypotympanic cavity. To the authors' knowledge this is the first description of hypotympanal cholesteatoma with such an extension, being treated through this approach.

Malemedicine.medical_specialtyAdolescentHypotympanotomyOpen cavityEar MiddlemedicineHumansCholesteatoma Middle Earbusiness.industryCholesteatomaGeneral Medicinemedicine.diseaseJugular paragangliomaMagnetic Resonance ImagingSurgerymedicine.anatomical_structureOtorhinolaryngologyMiddle earSurgeryTomography X-Ray ComputedbusinessTreacher Collins syndromeMandibulofacial DysostosisJugular foramenPreoperative imagingAuris Nasus Larynx
researchProduct

Treacher Collins syndrome-a case report and review of literature

2011

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E Treacher Collins who described the essential components of the condition in 1900. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. It affects structures which are derivatives of the first and second brachial arches. The most common manifestations of TCS are the antimongloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia of zygoma and mandible; and a variety of ear abnormalities. This article describes clinical and radiographic features of T…

medicine.medical_specialtybusiness.industryMandiblePrenatal diagnosisOdontologíamedicine.disease:CIENCIAS MÉDICAS [UNESCO]DermatologyCiencias de la saludHypoplasiaSurgeryPalpebral fissuremedicine.anatomical_structureUNESCO::CIENCIAS MÉDICASMedicineEyelidCraniofacialDifferential diagnosisbusinessGeneral DentistryTreacher Collins syndrome
researchProduct