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Clinical, histomorphological and therapeutic features of the Van der Woude Syndrome: literature review and presentation of an unusual case.
Eur J Paediatr Dent. 2018 Mar; 19(1):70-73.EJ

Abstract

BACKGROUND

Van der Woude syndrome (VWS), an autosomal dominant condition associated with lower lip pits and/or cleft palate, is caused by mutations in the interferon regulatory factor 6 gene (lRF6 gene). The genetic alterations identified to date that contribute to expression of the syndrome are chiefly mutations located on chromosome 1 (the largest of our chromosomes), mutations at p36 that codifies the gene GRHL (grainy-head transcriptor factor) and mutations involving IRF6 (interferon regulatory factor). With frequency ranging from 1:35,000 to 1:100,000, depending on ethnicity, gender, and socio-economic status, the syndrome accounts for about 2% of orofacial clefts. The clinical and histomorphological aspects of VWS are studied, and a case of heterozygous female twins of whom only one was affected with VWS is reported.

CONCLUSION

This very rare case (no similar case has been reported to date) contributes further evidence on modifying factors in the expression of this condition.

Authors+Show Affiliations

Department of Surgical Medical Sciences and Integrated Diagnostics, University of Genoa, Genoa, Italy.Department of Surgical Medical Sciences and Integrated Diagnostics, University of Genoa, Genoa, Italy.Department of Surgical Medical Sciences and Integrated Diagnostics, University of Genoa, Genoa, Italy.Department of Surgical Medical Sciences and Integrated Diagnostics, University of Genoa, Genoa, Italy.Department of Surgical Medical Sciences and Integrated Diagnostics, University of Genoa, Genoa, Italy.Department of Surgical Medical Sciences and Integrated Diagnostics, University of Genoa, Genoa, Italy.Department of Surgical Medical Sciences and Integrated Diagnostics, University of Genoa, Genoa, Italy.Plastic Surgeon, Department of Clinical Sciences and Community Health, University of Milan, IRCCS Foundation Cà Granda Policlinico , Milan Italy.Department of Surgical Medical Sciences and Integrated Diagnostics, University of Genoa, Genoa, Italy.

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

29569458

Citation

Angiero, F, et al. "Clinical, Histomorphological and Therapeutic Features of the Van Der Woude Syndrome: Literature Review and Presentation of an Unusual Case." European Journal of Paediatric Dentistry, vol. 19, no. 1, 2018, pp. 70-73.
Angiero F, Farronato D, Ferrante F, et al. Clinical, histomorphological and therapeutic features of the Van der Woude Syndrome: literature review and presentation of an unusual case. Eur J Paediatr Dent. 2018;19(1):70-73.
Angiero, F., Farronato, D., Ferrante, F., Paglia, M., Crippa, R., Rufino, L., Trevisiol, A., Mazzola, R. F., & Blasi, S. (2018). Clinical, histomorphological and therapeutic features of the Van der Woude Syndrome: literature review and presentation of an unusual case. European Journal of Paediatric Dentistry, 19(1), 70-73. https://doi.org/10.23804/ejpd.2018.19.01.13
Angiero F, et al. Clinical, Histomorphological and Therapeutic Features of the Van Der Woude Syndrome: Literature Review and Presentation of an Unusual Case. Eur J Paediatr Dent. 2018;19(1):70-73. PubMed PMID: 29569458.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical, histomorphological and therapeutic features of the Van der Woude Syndrome: literature review and presentation of an unusual case. AU - Angiero,F, AU - Farronato,D, AU - Ferrante,F, AU - Paglia,M, AU - Crippa,R, AU - Rufino,L, AU - Trevisiol,A, AU - Mazzola,R F, AU - Blasi,S, PY - 2018/3/24/entrez PY - 2018/3/24/pubmed PY - 2019/10/1/medline SP - 70 EP - 73 JF - European journal of paediatric dentistry JO - Eur J Paediatr Dent VL - 19 IS - 1 N2 - BACKGROUND: Van der Woude syndrome (VWS), an autosomal dominant condition associated with lower lip pits and/or cleft palate, is caused by mutations in the interferon regulatory factor 6 gene (lRF6 gene). The genetic alterations identified to date that contribute to expression of the syndrome are chiefly mutations located on chromosome 1 (the largest of our chromosomes), mutations at p36 that codifies the gene GRHL (grainy-head transcriptor factor) and mutations involving IRF6 (interferon regulatory factor). With frequency ranging from 1:35,000 to 1:100,000, depending on ethnicity, gender, and socio-economic status, the syndrome accounts for about 2% of orofacial clefts. The clinical and histomorphological aspects of VWS are studied, and a case of heterozygous female twins of whom only one was affected with VWS is reported. CONCLUSION: This very rare case (no similar case has been reported to date) contributes further evidence on modifying factors in the expression of this condition. SN - 1591-996X UR - https://www.unboundmedicine.com/medline/citation/29569458/Clinical_histomorphological_and_therapeutic_features_of_the_Van_der_Woude_Syndrome:_literature_review_and_presentation_of_an_unusual_case_ L2 - https://doi.org/10.23804/ejpd.2018.19.01.13 DB - PRIME DP - Unbound Medicine ER -