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.
MeSH
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 -