Article

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

2020-03-05

Abstract excerpt

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...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6cc5c8a1-3623-5001-8770-d0558455470f
DOI: 10.12688/f1000research.22488.1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Case Report: Congenital absence of uvula and trismus - a rare presentation of Van der Woude syndromeDOI 10.12688/f1000research.22488.1Read

Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.Semantic proximity Read

Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital.Semantic proximity Read

Van der Woude syndrome: dentofacial features and implications for clinical practice.Semantic proximity Read

Van der Woude syndrome: a report of two cases.Semantic proximity Read

[Van der Woude syndrome: An unrecognised clinical entity].Semantic proximity Read

Clinical and genetic features of Van der Woude syndrome in two large families in Brazil.Semantic proximity Read

Genetics and Management of the Patient with Orofacial CleftSemantic proximity Read

Phenotypic variability in van der Woude syndrome.Semantic proximity Read

Novel mutation causing Zellweger syndrome.Semantic proximity Read

Orofacial clefts embryology, classification, epidemiology, and geneticsSemantic proximity Read

Van der Woude syndrome.Semantic proximity Read

Ellis-van Creveld syndrome in a neonate: a case report.Semantic proximity Read