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Phenotypic variability in van der Woude syndrome.
Genet Couns. 1995; 6(3):221-6.GC

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+Show Affiliations

Lacombe D
Department of Medical Genetics, Pellegrin-Children's Hospital, University of Bordeaux II, France.
Pedespan JM
No affiliation info available
Fontan D
No affiliation info available
Chateil JF
No affiliation info available
Verloes A
No affiliation info available

MeSH

Abnormalities, MultipleAdultBrainChildChromosome AberrationsChromosome DisordersChromosomes, Human, Pair 1Cleft LipCleft PalateFemaleGenes, DominantHumansInfant, NewbornMalePedigreePhenotypeSyndrome

Pub Type(s)

Journal Article

Language

eng

PubMed ID

8588850

Citation

Lacombe, D, et al. "Phenotypic Variability in Van Der Woude Syndrome." Genetic Counseling (Geneva, Switzerland), vol. 6, no. 3, 1995, pp. 221-6.
Lacombe D, Pedespan JM, Fontan D, et al. Phenotypic variability in van der Woude syndrome. Genet Couns. 1995;6(3):221-6.
Lacombe, D., Pedespan, J. M., Fontan, D., Chateil, J. F., & Verloes, A. (1995). Phenotypic variability in van der Woude syndrome. Genetic Counseling (Geneva, Switzerland), 6(3), 221-6.
Lacombe D, et al. Phenotypic Variability in Van Der Woude Syndrome. Genet Couns. 1995;6(3):221-6. PubMed PMID: 8588850.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Phenotypic variability in van der Woude syndrome. AU - Lacombe,D, AU - Pedespan,J M, AU - Fontan,D, AU - Chateil,J F, AU - Verloes,A, PY - 1995/1/1/pubmed PY - 1995/1/1/medline PY - 1995/1/1/entrez SP - 221 EP - 6 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 6 IS - 3 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/8588850/Phenotypic_variability_in_van_der_Woude_syndrome_ L2 - http://www.diseaseinfosearch.org/result/7346 DB - PRIME DP - Unbound Medicine ER -