Search results for "Van der Woude syndrome"

showing 3 items of 3 documents

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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Congenital lower lip pits : Van der Woude syndrome

2018

The Van der Woude syndrome is a rare autosomal dominant development malformation characterized by a paramedian lip pits and /or sinuses or conical elevation of lower lip associated with cleft lip and or palate. These congenital lip pits usually appear clinically in the vermilion border of lip, with or without secretion. The critical region of VWS has been identified to be at Iq32 to 41 with high, but incomplete penetrance and variable expressivity. Therapeutic intervention is generally required for cosmetic reason or when recurrent inflammation is present. Dental surgeon should be aware of this syndrome, as it is associated with variety of other congenital malformation. van der woude syndro…

Oral Medicine and Pathologybusiness.industryLower lipRecurrent inflammationCase ReportAnatomymedicine.disease:CIENCIAS MÉDICAS [UNESCO]Penetrance03 medical and health sciencesstomatognathic diseases0302 clinical medicinemedicine.anatomical_structurestomatognathic systemBilateral cleft lip030225 pediatricsUNESCO::CIENCIAS MÉDICASmedicineVan der Woude syndrome030212 general & internal medicineVermilion borderbusinessGeneral DentistryCongenital lower lip pits
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Van der Woude syndrome- a syndromic form of orofacial clefting

2012

Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or both. This case report describes van der Woude syndrome in a 19 year old male patient with a specific reference to the various aspects of this condition, as clinical appearance, etiological factors (genetic aspects), differential diagnosis, investigative procedures and management. Key words:Cleft palate…

Pediatricsmedicine.medical_specialtyOral Medicine and Pathologybusiness.industryClinical appearanceOdontologíaCase Reportmedicine.disease:CIENCIAS MÉDICAS [UNESCO]PenetranceCiencias de la saludstomatognathic diseasesMale patientUNESCO::CIENCIAS MÉDICASEtiologyMedicineVan der Woude syndromeDifferential diagnosisbusinessGeneral DentistryJournal of Clinical and Experimental Dentistry
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