Van der Woude Syndrome with Short Review of the Literature

Deshmukh, Pallavi K.; Deshmukh, Kiran; Mangalgi, Anand; Patil, Subhash; Hugar, Deepa; Kodangal, Saraswathi Fakirappa

doi:10.1155/2014/871460

Cited by 12 publications

(18 citation statements)

References 19 publications

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“…(1954) that describes the pathology [4,5,7]. Other authors describe the prevalence in females and there are also some studies reporting the prevalence in males [6,8].…”

Section: Discussionmentioning

confidence: 99%

“…as pits with a large depression in the central portion surrounded by elevated edges with stratified squamous epithelium in the margins and a thin central area, while most basal cells are vacuolated with displacement of the nucleus, which resemble immature epithelial cells [6].…”

Section: Deshmukh Et Al (2014) Describe the Histopathology Of Vwsmentioning

confidence: 99%

“…VWS has varied expression can be manifested through various signs and symptoms mentioned above, but there are other syndromes that should be considered in the presumptive diagnosis: Popliteal Pterigia Syndrome (PPS), Hirschsprung's disease, digital or of acial syndrome type 1, ankyloblepharon threadlike adnatum [2,6].…”

Section: Deshmukh Et Al (2014) Describe the Histopathology Of Vwsmentioning

confidence: 99%

“…Thus, as it is a syndrome caused by mutations in IRF6 gene manifested by changes in chromosome 1q32-q41 and 1p34 (VWS2), there is no cure, but there are treatment options for the signs and symptoms depending on the event, ranging from surgeries in cases of cleft lips and cleft palate through the closure of the clefts, bone grafts, implants, orthodontic and/or orthopedic treatment, dental prosthesis, cosmetic dentistry, in addition to have the cardiac abnormalities monitored and treated by a cardiologist [1][2][3][4][5][6][7][8].…”

Section: Deshmukh Et Al (2014) Describe the Histopathology Of Vwsmentioning

confidence: 99%

“…As extra-oral manifestations, congenital heart defect, accessory nipple and Hischsprung disease can be found. It has an incidence of 1 in 75,000 to 100,000 [1][2][3][4]6].…”

mentioning

confidence: 99%

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Surgical Treatment of Lip Pits In The Van Der Woude Syndrome

Almeida¹

2017

JDODT

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“…(1954) that describes the pathology [4,5,7]. Other authors describe the prevalence in females and there are also some studies reporting the prevalence in males [6,8].…”

Section: Discussionmentioning

confidence: 99%

Section: Deshmukh Et Al (2014) Describe the Histopathology Of Vwsmentioning

confidence: 99%

Section: Deshmukh Et Al (2014) Describe the Histopathology Of Vwsmentioning

confidence: 99%

Section: Deshmukh Et Al (2014) Describe the Histopathology Of Vwsmentioning

confidence: 99%

“…As extra-oral manifestations, congenital heart defect, accessory nipple and Hischsprung disease can be found. It has an incidence of 1 in 75,000 to 100,000 [1][2][3][4]6].…”

mentioning

confidence: 99%

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Surgical Treatment of Lip Pits In The Van Der Woude Syndrome

Almeida¹

2017

JDODT

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Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome

Wan

Qin

et al. 2020

Molec Gen & Gen Med

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BackgroundInterferon Regulatory Factor 6 (IRF6) gene encodes a member of the IRF family of transcription factors. Mutations in IRF6 cause Van der Woude Syndrome (VWS), which is the most common malformation of syndromic orofacial clefts in humans.MethodsHere, we performed sequencing studies of six families with VWS in the Chinese Han population. The entire IRF6‐coding region and the exon–intron boundaries including exons 3–8 and part of exon 9 were screened among all the collected family members by Sanger sequencing.ResultsWe found a novel splice site variant c.175‐6T>A, two novel missense variants (p.Lys66Arg and p.Pro107Thr), in addition with a previously reported missense variant (p.Leu87Phe), which were all located in and nearby exon 4 of IRF6. Meanwhile, a novel frameshift variant p.G257Vfs*46 in exon 7 of IRF6 was also detected. All the mutations presented to be co‐segregated in each family.ConclusionOur study has advanced the understanding of the genetic architecture of VWS and provides the basis for genetic counseling, antenatal diagnosis, and gene therapy of high risk groups.

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Clinical Findings and Outcomes of Palatal Repair in 9 Patients With Van der Woude Syndrome

Allam

Haredy

2020

Ann Plast Surg

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Introduction Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits, is caused by mutations in interferon regulatory factor 6 gene. It is reported to be the most common syndromic cleft worldwide. This case series presents the phenotypic characteristics and treatment outcomes in a group of 9 patients diagnosed with VWS. Methods A retrospective review was performed on records of patients given a diagnosis of VWS presenting to the Department of Plastic Surgery of Sohag University between July 2009 and November 2019. Data analyses included age and sex of affected patients, type of the cleft, associated anomalies, presence of lower lip pits, and history of lower lip pits/cleft in the family and treatment outcomes. Results The study identified 9 patients (male = 2, female = 7). Age at first presentation ranged between 1 week and 7 years (mean = 1.3 years). Four patients had bilateral cleft lip and palate and 1 patient had unilateral cleft lip and palate (UCLP), whereas 4 patients had isolated cleft palate. Bilateral lower lip pits were presented in 8 patients, whereas the ninth patient has unilateral pit. Family history was positive in 3 patients. Most patients in this study developed after palatal repair speech problems with an increased rate of secondary surgical procedures needed for correction of velopharyngeal insufficiency. Conclusions All reviewed cases of VWS presented with lower lip pits and cleft palate with or without cleft lip. A positive family history of similar conditions was demonstrated in 33.3% of our patients. This study suggests an increased incidence of secondary palatal surgeries for velopharyngeal insufficiency in patients with VWS; this warrant further studies including control group of nonsyndromic cleft patients.

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Van der Woude Syndrome with Short Review of the Literature

Cited by 12 publications

References 19 publications

Surgical Treatment of Lip Pits In The Van Der Woude Syndrome

Surgical Treatment of Lip Pits In The Van Der Woude Syndrome

Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome

Clinical Findings and Outcomes of Palatal Repair in 9 Patients With Van der Woude Syndrome

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