Search results for "Craniofacial abnormality"

showing 4 items of 4 documents

The bite force and craniofacial morphology in patients with acromegaly: A pilot study

2013

Objectives: Acromegaly is a metabolic disorder caused by increased growth hormone secretion. As a consequence of acromegaly some typical craniofacial morphology changes appear. This pilot study was conducted to compare the bite force and the characteristic size and shape of the craniofacial components of acromegalic patients with the healthy Turkish individuals. In additon, the correlations between bite force and craniofacial morphology of patients with acromegaly and control individuals were evaluated. Study Design: The maximum bite force of the participants was recorded with strain-gage transducer. Lateral xray scans were made under standard conditions, in centric occlusion. On cephalogra…

MaleCephalometryCraniofacial abnormalityDentistryPilot ProjectsOdontologíaBite ForceCraniofacial AbnormalitiesAcromegalyHumansMedicineGonial angleCraniofacialGeneral DentistryOral Medicine and Pathologybusiness.industryResearchMandibleCraniometrymedicine.disease:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludBite force quotientSella turcicamedicine.anatomical_structureOtorhinolaryngologyAcromegalyUNESCO::CIENCIAS MÉDICASFemaleSurgerybusiness
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Baraitser-Winter cerebrofrontofacial syndrome : Delineation of the spectrum in 42 cases

2015

International audience; Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode beta- and gamma-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris…

MaleMicrocephalyPathologyCraniofacial abnormality[SDV]Life Sciences [q-bio]MedizinGYRAL MALFORMATIONSCraniofacial AbnormalitiesFUNCTIONAL DIVERSITY0302 clinical medicinePtosisGene OrderGenetics(clinical)HypertelorismNon-U.S. Gov'tChildGenetics (clinical)ArthrogryposisDystonia0303 health sciencesResearch Support Non-U.S. Gov'tAnatomy3. Good healthPhenotypeChild PreschoolFemalemedicine.symptomAbnormalitiesMultipleRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Adultmedicine.medical_specialtyAPPARENTLY UNDESCRIBED SYNDROMEAdolescentLissencephalyBiologyResearch SupportArticle03 medical and health sciencesYoung AdultSDG 3 - Good Health and Well-beingmedicineGeneticsJournal ArticleHumansAbnormalities MultiplePreschool030304 developmental biologySHALLOW ORBITSNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]GAMMA-ACTINPachygyriaFaciesmedicine.diseaseIRIS COLOBOMAActinsBETA-ACTINAbnormalities Multiple; Actins; Adolescent; Adult; Amino Acid Substitution; Child; Child Preschool; Craniofacial Abnormalities; Facies; Female; Gene Order; Genetic Loci; Humans; Male; Mutation; Phenotype; Young AdultAmino Acid SubstitutionGenetic LociFACIAL SYNDROMEMutation030217 neurology & neurosurgeryMENTAL-RETARDATIONGROWTH-RETARDATION
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Prevalence and risk factors for sensorineural hearing loss: Western Sicily overview.

2013

The objective of this work was to evaluate the prevalence of sensorineural hearing loss (SNHL) and distribution of the main risk factors associated to it focusing on their role in the development of deafness and their interaction. We performed a global audiological assessment (through TEOAE, tympanometry and ABR) in 508 infants at risk studying the main risk factors reported by Joint Committee on Infant Hearing (2007). Fifty-one infants (10.03 %) were diagnosed with SNHL (45 bilateral and 6 unilateral) with a mean hearing threshold of 87.39 ± 28.25 dB HL; family history of hearing impairment (HI) and TORCH infections indicated independent significant risk factors (P < 0.00001 and P = 0.0…

MalePediatricsmedicine.medical_specialtyCraniofacial abnormalityHearing lossHearing Loss SensorineuralAudiologySettore MED/38 - Pediatria Generale E SpecialisticaNeonatal ScreeningRisk Factorsotorhinolaryngologic diseasesEvoked Potentials Auditory Brain StemPrevalenceMedicineHumansFamily historySicilyAbsolute threshold of hearingInfants at risk Neonatal hearing screening Sensorineural hearing loss NICU infantsmedicine.diagnostic_testbusiness.industryIncidence (epidemiology)IncidenceInfant NewbornInfantGeneral MedicineTympanometrymedicine.diseaseConductive hearing lossSettore MED/32 - AudiologiaSettore MED/31 - OtorinolaringoiatriaOtorhinolaryngologySensorineural hearing lossFemalemedicine.symptombusinessEuropean archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
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Nonsyndromic cleft lip and/or palate: A multicenter study of the dental anomalies involved

2018

Background Nonsyndromic cleft lip and/or palate (NSCL/P) is the most common craniofacial malformation. Due to the anatomical defect present in the alveolar process, these patients tend to exhibit more dental anomalies. The aim of this study was to identify the prevalence of dental anomalies in patients with NSCL/P by obtaining orthodontic documentation from Brazilian Centers for cleft lip and palate treatment. Material and Methods A retrospective analysis (2000-2014) was conducted on orthodontic archives, radiographs and medical records of NSCL/P of 524 patients under orthodontic treatment. Panoramic radiographs and intra-oral photographs were examined to identify these anomalies. Categoric…

medicine.medical_specialtyCraniofacial abnormalityDentistry03 medical and health sciences0302 clinical medicinestomatognathic systemEpidemiologyMedicine030212 general & internal medicineCraniofacialGeneral DentistryDental alveolusOral Medicine and Pathologybusiness.industryResearchAlveolar processMedical recordDental Care for Children030206 dentistry:CIENCIAS MÉDICAS [UNESCO]medicine.diseasestomatognathic diseasesmedicine.anatomical_structureUNESCO::CIENCIAS MÉDICASAbnormalitybusinessJournal of Clinical and Experimental Dentistry
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