Search results for "Facial cleft"

showing 3 items of 3 documents

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

2018

IF 2.264; International audience; The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. This work aimed to identify molecular bases for the OAFNS. Among a cohort of 130 patients with frontonasal dysplasia, accurate phenotyping identified 18 individuals with OAFNS. We describe their clinical spectrum, including the report of new features…

0301 basic medicineMaleInheritance Patterns030105 genetics & heredityfrontonasal dysplasiawhole exome sequencingCraniofacial Abnormalities0302 clinical medicinePolymicrogyriaEye AbnormalitiesEar External10. No inequalityChildGenetics (clinical)Exome sequencingwhole genome sequencingThyroid agenesisHypoplasiaDNA-Binding ProteinsPhenotypeChild PreschoolFemaleRespiratory System Abnormalitiesmedicine.medical_specialtyAdolescentQuantitative Trait LociOculoauriculofrontonasal syndrome03 medical and health sciencesExome SequencingGeneticsmedicineHumansGenetic Predisposition to DiseaseFrontonasal dysplasiaGenetic Association StudiesWhole genome sequencingHomeodomain Proteinsbusiness.industryFacial cleftSkullInfant NewbornFaciesInfant030206 dentistrymedicine.diseaseDermatologySpine[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsDysplasiabusinessTomography Spiral ComputedTranscription Factors
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Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

2016

Objective: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA).Methods: This was a population-based case–malformed control study based on 21 EUROCAT CA registries covering 10.1 million births (1995–2011), including births to 2005 in which the clubfoot signal was generated and a subsequent independent study population of 6.3 million births. A total of 226,806 babies with CA included livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis. First-trimester lamotrigine monotherapy exposure in OC cases and clubfoot cases was compared to other …

115congenital anomalies ; orofacial clefts ; lamotrigine ; pregnancy0302 clinical medicinePregnancyOdds RatioRegistries030212 general & internal medicineEPILEPSYeducation.field_of_studyTriazinesObstetricsAbsolute risk reductionANTIEPILEPTIC DRUGSAbnormalities Drug-InducedCleft PalateEuropeAnesthesiaINCREASED FREQUENCYAnticonvulsantsFemalemedicine.drugAdultRisk61medicine.medical_specialtyCleft LipPopulationPrenatal diagnosisLamotrigineLamotrigineSensitivity and SpecificityArticle03 medical and health sciencesJournal ArticlemedicineHumansAbnormalities Drug-Induced/epidemiology; Adult; Anticonvulsants/adverse effects; Anticonvulsants/therapeutic use; Case-Control Studies; Cleft Lip/chemically induced; Cleft Lip/epidemiology; Cleft Palate/chemically induced; Cleft Palate/epidemiology; Epilepsy/drug therapy; Epilepsy/epidemiology; Europe/epidemiology; Female; Humans; Odds Ratio; Pregnancy; Pregnancy Complications/drug therapy; Pregnancy Complications/epidemiology; Pregnancy Trimester First; Registries; Risk; Sensitivity and Specificity; Triazines/adverse effects; Triazines/therapeutic useMALFORMATIONSeducationPregnancy53business.industryCLUBFOOTCase-control studyOdds ratio228medicine.diseaseConfidence intervalPregnancy ComplicationsPregnancy Trimester FirstPALATECase-Control StudiesREGISTRYNeurology (clinical)business030217 neurology & neurosurgeryNeurology
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Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder

2022

Abstract Background Congenital maxillomandibular syngnathia is a rare craniofacial anomaly leading to difficulties in feeding, breathing and ability to thrive. The fusion may consist of soft tissue union (synechiae) to hard tissue union. Isolated cases of maxillomandibular fusion are extremely rare, it is most often syndromic in etiology. Case presentation Clinical management of a female newborn with oromaxillofacial abnormities (synechiae, cleft palate, craniofacial dysmorphisms, dental anomaly) and extraoral malformations (skinfold overlying the nails of both halluces, syndactyly, abnormal external genitalia) is presented. The associated malformations addressed to molecular genetic invest…

Cleft PalateCleft LipInterferon Regulatory FactorsMutationInfant NewbornMutation MissenseHumansFemaleGeneral MedicineAnkylosis Case report IRF6 Orofacial cleft Popliteal pterygium syndrome Syndactyly Syngnathia Van der Woude syndrome Female Humans Infant Newborn Interferon Regulatory Factors Mutation Mutation Missense Cleft Lip Cleft Palate Lower Extremity Deformities CongenitalLower Extremity Deformities Congenital
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