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

M Rizos, MN Spyropoulos - The European Journal of …, 2004 - academic.oup.com
Congenital pits of the lower lip constitute a rare developmental malformation, transmitted by
an autosomal dominant mode, with considerable heterogeneity as regards the expression of …

Update on 13 syndromes affecting craniofacial and dental structures

TN Bartzela, C Carels, JC Maltha - Frontiers in physiology, 2017 - frontiersin.org
Care of individuals with syndromes affecting craniofacial and dental structures are mostly
treated by an interdisciplinary team from early childhood on. In addition to medical and …

IRF6 mutation screening in non‐syndromic orofacial clefting: analysis of 1521 families

EJ Leslie, DC Koboldt, CJ Kang, L Ma… - Clinical …, 2016 - Wiley Online Library
Van der Woude syndrome (VWS) is an autosomal dominant malformation syndrome
characterized by orofacial clefting (OFC) and lower lip pits. The clinical presentation of VWS …

Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34

H Koillinen, FK Wong, J Rautio, V Ollikainen… - European Journal of …, 2001 - nature.com
Abstract The Van der Woude syndrome (VWS) is a dominantly inherited developmental
disorder characterized by pits and/or sinuses of the lower lip, cleft lip and/or cleft palate. It is …

A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32–q41

BC Schutte, BC Bjork, KB Coppage, MI Malik… - Genome …, 2000 - genome.cshlp.org
Van der Woude syndrome (VWS) is a common form of syndromic cleft lip and palate and
accounts for∼ 2% of all cleft lip and palate cases. Distinguishing characteristics include cleft …

Van der Woude syndrome: dentofacial features and implications for clinical practice

AK Lam, DJ David, GC Townsend… - Australian Dental …, 2010 - Wiley Online Library
Abstract Background: Van der Woude syndrome (VWS) is the most common clefting
syndrome in humans. It is characterized by the association of congenital lower lip fistulae …

Craniofacial characteristics in Van der Woude syndrome

B Estévez‐Arroyo, I Gómez‐Mendo… - Oral …, 2023 - Wiley Online Library
Aim To describe the particular craniofacial characteristics of Van der Woude syndrome
(VWS) patients compared to patients with a non‐syndromic cleft (CG1) and to a …

Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan

S Malik, ER Wilcox, S Naz - Clinical Genetics, 2014 - Wiley Online Library
The role of interferon regulatory factor 6 (IRF6) gene mutations in causing Van der Woude
syndrome (VWS) and poplyteal pterygium syndrome has been described in different …

Van der Woude syndrome in twins

C Tokat, U Bilkay, E Songur, Y Akin - Journal of Craniofacial …, 2005 - journals.lww.com
This article discusses monozygotic twin patients with Van der Woude syndrome, the most
common form of syndromic cleft lip and palate, who have concordant manifestations. The …

Van der Woude syndrome: clinical presentation in 64 patients

JJ Huang, JW Hou, YC Tan, KT Chen… - The Cleft palate …, 2007 - journals.sagepub.com
Objective: Van der Woude syndrome, characterized by lip pits and cleft lip/palate, presents
with variable expressions. This retrospective study was designed to obtain a better …