title: Phenotypic variability in van der Woude syndrome.
abstract: The association of lower lip pits with cleft lip and/or palate defines the van der Woude syndrome (VWS). VWS has an autosomal dominant mode of inheritance wiht a high penetrance and a variable expression. A gene involved in the origin of VWS is linked to loci on chromosome 1q32-q41. The gene might be involved in the programmed cell death of neural crest derived cells. Other malformations have been associated with the syndrome (dental defects, syngnathia, limb abnormalities, popliteal webs...). We report 4 cases with VWS demonstrating the wide clinical variability. One case shows brain abnormalities that might be part of the clinical spectrum of VWS.
authors.affiliation: Department of Medical Genetics, Pellegrin-Children's Hospital, University of Bordeaux II, France.
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: J M
authors.initials: JM
authors.lastname: Pedespan
authors.forename: D
authors.initials: D
authors.lastname: Fontan
authors.forename: J F
authors.initials: JF
authors.lastname: Chateil
authors.forename: A
authors.initials: A
authors.lastname: Verloes
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome