Case Report: Congenital absence of uvula and trismus - a rare presentation of Van der Woude syndrome

Van der Woude syndrome (VWS) is the most common single gene mutation causing cleft lip/palate, responsible for approximately 2% of all cases. Inherited in an autosomal dominant pattern, VWS occurs at an incidence of 1 in 35,000 to 100,000. The most commonly reported manifestations of VWS is lip pits, cleft lip or palate. We present a case of a 34-week infant with unique and rarely reported symptoms of VWS, such as trismus and absent uvula.

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Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy

Epilepsy & Behavior ◽

10.1016/j.yebeh.2010.01.168 ◽

2010 ◽

Vol 17 (4) ◽

pp. 531-535 ◽

Cited By ~ 9

Author(s):

Amanda G. Wood ◽

Michael M. Saling ◽

Marco Fedi ◽

Samuel F. Berkovic ◽

Ingrid E. Scheffer ◽

...

Keyword(s):

Frontal Lobe ◽

Gene Mutation ◽

Autosomal Dominant ◽

Single Gene ◽

Frontal Lobe Epilepsy ◽

Neuropsychological Function ◽

Nocturnal Frontal Lobe Epilepsy ◽

Single Gene Mutation

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Clinical and Genetic Features of Van der Woude Syndrome in Two Large Families in Brazil

The Cleft Palate-Craniofacial Journal ◽

10.1597/06-064 ◽

2007 ◽

Vol 44 (3) ◽

pp. 239-243 ◽

Cited By ~ 3

Author(s):

Hercílio Martelli-Junior ◽

Marcelo Reis Chaves ◽

Mário Sérgio Oliveira Swerts ◽

Roseli Teixeira de Miranda ◽

Paulo Rogério Ferreti Bonan ◽

...

Keyword(s):

Cleft Lip ◽

Autosomal Dominant ◽

Dominant Mode ◽

Van Der Woude Syndrome ◽

Gender Distribution ◽

Two Generations ◽

Genetic Features ◽

Cleft Lip Palate ◽

Large Families ◽

Unique Association

Objective: This report describes the clinical and genetic features of two large and unrelated families with Van der Woude syndrome in Brazil, emphasizing the range of anomalies found within and between the families. Patients: Family 1 included 54 descendants spanning five generations, with 12 (22.23%) individuals manifesting Van der Woude syndrome. In family 2, examinations comprised 17 descendants distributed over four generations, and 8 (47.06%) people presented features of Van der Woude syndrome. Results: In family 1, the first two generations were not affected, but the other three generations had affected members showing a unique association of lip pits and cleft lip/palate with equilibrated gender distribution. In family 2, all generations were affected, and the clinical expression of disease was heterogeneous, including members with isolated clefts, isolated lip pits, and association of cleft lip/palate with lip pits. In both families, affected members transmitted their traits to descendants in an autosomal dominant mode of inheritance with apparent low penetrance in family 1, but high penetrance in family 2. Patients were treated surgically by cheiloplasty and/or palatoplasty with satisfactory results. Conclusions: Van der Woude syndrome was transmitted by an autosomal dominant pattern with variable expressivity and penetrance and equilibrated gender distribution. Physicians should be aware of the variety of malformations that can be associated with Van der Woude syndrome. Genetic counseling in Van der Woude syndrome affected families is important, because a high percentage of descendants can have some kind of clefting.

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Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

Case Reports in Obstetrics and Gynecology ◽

10.1155/2018/7927362 ◽

2018 ◽

Vol 2018 ◽

pp. 1-4

Author(s):

B. Wormald ◽

S. Elorbany ◽

H. Hanson ◽

J. W. Williams ◽

S. Heenan ◽

...

Keyword(s):

Case Report ◽

Gene Mutation ◽

Leydig Cell ◽

Autosomal Dominant ◽

Review Of The Literature ◽

Autosomal Dominant Fashion ◽

Rare Tumours ◽

Leydig Cell Tumour ◽

Underlying Pathology ◽

Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

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Fracture of maxillo-zygomatic complex in patient with unilateral trans-incisive cleft lip/palate: case report

Oral Surgery ◽

10.1111/ors.12026 ◽

2013 ◽

Vol 6 (3) ◽

pp. 149-154

Author(s):

J.D. da Silva de Menezes ◽

G.L. Toledo ◽

A.P.S. Correa ◽

L.C. Carrasco ◽

M.M. Capelari ◽

...

Keyword(s):

Case Report ◽

Cleft Lip ◽

Cleft Lip Palate

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Synaptic transmission reversibly conditioned by single-gene mutation in Drosophila melanogaster

Nature ◽

10.1038/259489a0 ◽

1976 ◽

Vol 259 (5543) ◽

pp. 489-491 ◽

Cited By ~ 69

Author(s):

KAZUO IKEDA ◽

SEIJI OZAWA ◽

SUSUMU HAGIWARA

Keyword(s):

Drosophila Melanogaster ◽

Synaptic Transmission ◽

Gene Mutation ◽

Single Gene ◽

Single Gene Mutation

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Prosthetic Rehabilitation of Cleft Lip Palate with Andrews Bridge Modified as Obturator Prosthesis: Case Report

Balkan Journal of Dental Medicine ◽

10.2478/bjdm-2020-0010 ◽

2020 ◽

Vol 24 (1) ◽

pp. 57-61

Author(s):

Almina Murić ◽

Demet Cagil Ayvalioglu ◽

Bilge Gokcen Rohlig

Keyword(s):

Case Report ◽

Cleft Palate ◽

Orthodontic Treatment ◽

Cleft Lip ◽

Radiographic Evaluation ◽

Congenital Defects ◽

Prosthetic Rehabilitation ◽

Removable Partial Denture ◽

Partial Denture ◽

Cleft Lip Palate

SummaryBackground/Aim: Congenital defects such as cleft palate and lips require a long-lasting and multidisciplinary approach. In cases when surgical and orthodontic treatment is not feasible, prosthodontic management of these patients is advocated. Prosthetic rehabilitation of cleft palate in concerning of achieving aesthetic and function (such as swallowing and speech) outcomes is very demanding.Case report: Material and method: After performing the necessary surgical procedures and orthodontic treatment, 24-years-old male patient was sent to the Department for Maxillofacial Prosthetics of Istanbul University. Followed the clinical examination, the necessary periodontal and conservative therapy was performed. After radiographic evaluation and dental cast analysis prosthetic rehabilitation was performed. The prosthetic rehabilitation of cleft palate was accomplish with conventional fixed partial denture whose number of included abutment were defined by biomechanical principles. Additionally removable partial denture were manufactured for closing oro-nasal defects and lip supporting.Conclusions: The prosthetic rehabilitation resulted with functionally and aesthetically content prosthesis. With achieving proper swallowing Quality of Life of the patient was enormously enhanced.

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Mutations in P63 and IRF-6 Present with Overlapping Craniofacial Defects: A study from Lebanon

10.31487/j.ord.2019.01.04 ◽

2019 ◽

pp. 1-3

Author(s):

Mazen Kurban ◽

Edgar Jabbour ◽

Lamiaa Hamie ◽

Mazen Kurban ◽

Pamela Kassabian

Keyword(s):

Transcription Factors ◽

Cleft Lip ◽

Interferon Regulatory Factor ◽

Craniofacial Development ◽

Regulatory Factor ◽

Van Der Woude Syndrome ◽

Interferon Regulatory Factor 6 ◽

Cleft Lip Palate ◽

Exon 9 ◽

Craniofacial Defects

Interferon Regulatory Factor 6 (IRF-6) and p63 are two vital transcription factors implicated in normal craniofacial development. In this report, we present a family with Van Der Woude Syndrome (VWS) with a mutation in exon 9 of IRF-6 gene and a phenotypically overlapping case of Rapp-Hodgkin Syndrome (RHS) resulting from a mutation in the p63 gene. Members from both families presented with congenital lip pits and cleft lip/palate. The RHS case had additional ectodermal features that underscore the upstream nature of p63 in the complex p63-IRF-6 interactive pathway.

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