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[Van-der-Woude Syndrome].
Klin Padiatr. 2008 Jan-Feb; 220(1):26-8.KP

Abstract

We report on two families with different expression of a Van-der-Woude-Syndrome (VWS) and with proven mutation of the IRF6- gene. The Van-der-Woude syndrome is a rare disease, typically consisting of congenital pits of the lower lip in combination with cleft lip or cleft palate or both. The Van-der-Woude syndrome is an autosomal dominant syndrome with variable expression. The penetrance is between 0,89 and 0,99. It is important to establish the correct diagnosis by careful investigation of patients with cleft lip or cleft palate and their parents. Genetic counselling is recommended in such cases.

Authors+Show Affiliations

Del Frari B
Universitätsklinik für Plastische- und Wiederherstellungschirurgie der Medizinischen Universität Innsbruck, Austria.
Amort M
No affiliation info available
Janecke AR
No affiliation info available
Schutte BC
No affiliation info available
Piza-Katzer H
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentAge FactorsCleft LipCleft PalateFemaleGenetic CounselingHumansInfantInfant, NewbornInterferon Regulatory FactorsLipMutationPenetranceSyndromeTreatment Outcome

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

18095255

Citation

Del Frari, B, et al. "[Van-der-Woude Syndrome]." Klinische Padiatrie, vol. 220, no. 1, 2008, pp. 26-8.
Del Frari B, Amort M, Janecke AR, et al. [Van-der-Woude Syndrome]. Klin Padiatr. 2008;220(1):26-8.
Del Frari, B., Amort, M., Janecke, A. R., Schutte, B. C., & Piza-Katzer, H. (2008). [Van-der-Woude Syndrome]. Klinische Padiatrie, 220(1), 26-8.
Del Frari B, et al. [Van-der-Woude Syndrome]. Klin Padiatr. 2008 Jan-Feb;220(1):26-8. PubMed PMID: 18095255.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Van-der-Woude Syndrome]. AU - Del Frari,B, AU - Amort,M, AU - Janecke,A R, AU - Schutte,B C, AU - Piza-Katzer,H, Y1 - 2007/12/20/ PY - 2007/12/21/pubmed PY - 2008/3/22/medline PY - 2007/12/21/entrez SP - 26 EP - 8 JF - Klinische Padiatrie JO - Klin Padiatr VL - 220 IS - 1 N2 - We report on two families with different expression of a Van-der-Woude-Syndrome (VWS) and with proven mutation of the IRF6- gene. The Van-der-Woude syndrome is a rare disease, typically consisting of congenital pits of the lower lip in combination with cleft lip or cleft palate or both. The Van-der-Woude syndrome is an autosomal dominant syndrome with variable expression. The penetrance is between 0,89 and 0,99. It is important to establish the correct diagnosis by careful investigation of patients with cleft lip or cleft palate and their parents. Genetic counselling is recommended in such cases. SN - 0300-8630 UR - https://www.unboundmedicine.com/medline/citation/18095255/[Van_der_Woude_Syndrome]_ DB - PRIME DP - Unbound Medicine ER -