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Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene.
J Craniofac Surg. 2019 Jul; 30(5):e465-e467.JC

Abstract

Van der Woude syndrome (VWS) is a rare autosomal dominant disease, first reported in the literature in 1845 by Demarquay and subsequently thoroughly described in 1954 by Van der Woude. Van der Woude Syndrome is the most common form of syndromic orofacial clefting and individuals with this syndrome account for 2% of all cleft cases. Van der Woude syndrome clinically presents with congenital lip pits. These lip pits occur on paramedian portion of the vermillion border of the lip. In VWS, congenital lip pits occur in concurrence with cleft lip and/or cleft palate and represent the most common clinical problem occurring in 80% of the patients. Lip pits result due to notching of the lips at an early stage of development with fixation of tissues at the base of the notch or they may result from a failure of complete union of embryonic lateral sulci of lip. Single lip sinuses without any cleft syndrome are rare; lower lip fistulas in VWS are generally asymptomatic, and surgical management is usually accomplished because of aesthetic concerns. However, in some cases, patients may complain of watery drainage or hypotonia of the lower lip. Herein, the authors report a novel frameshift mutation in IRF6 gene which may contribute to better understanding the genetic aspect of VWS.

Authors+Show Affiliations

Department of Plastic, Reconstructive and Aesthetic Surgery, Kahramanmaraş Sütçü Imam University, Onikişubat.Department of Plastic, Reconstructive and Aesthetic Surgery, Kahramanmaraş Sütçü Imam University, Onikişubat.Department of Medical Genetics, Necip Fazil City Hospital, Dulkadiroğlu.Department of Plastic, Reconstructive and Aesthetic Surgery, Kahramanmaraş Sütçü Imam University, Onikişubat, Kahramanmaraş, Turkey.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

31299817

Citation

Ural, Alper, et al. "Van Der Woude Syndrome With a Novel Mutation in the IRF6 Gene." The Journal of Craniofacial Surgery, vol. 30, no. 5, 2019, pp. e465-e467.
Ural A, Bilgen F, Çakmakli S, et al. Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene. J Craniofac Surg. 2019;30(5):e465-e467.
Ural, A., Bilgen, F., Çakmakli, S., & Bekerecioğlu, M. (2019). Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene. The Journal of Craniofacial Surgery, 30(5), e465-e467. https://doi.org/10.1097/SCS.0000000000005552
Ural A, et al. Van Der Woude Syndrome With a Novel Mutation in the IRF6 Gene. J Craniofac Surg. 2019;30(5):e465-e467. PubMed PMID: 31299817.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene. AU - Ural,Alper, AU - Bilgen,Fatma, AU - Çakmakli,Seda, AU - Bekerecioğlu,Mehmet, PY - 2019/7/14/entrez PY - 2019/7/14/pubmed PY - 2019/10/28/medline SP - e465 EP - e467 JF - The Journal of craniofacial surgery JO - J Craniofac Surg VL - 30 IS - 5 N2 - Van der Woude syndrome (VWS) is a rare autosomal dominant disease, first reported in the literature in 1845 by Demarquay and subsequently thoroughly described in 1954 by Van der Woude. Van der Woude Syndrome is the most common form of syndromic orofacial clefting and individuals with this syndrome account for 2% of all cleft cases. Van der Woude syndrome clinically presents with congenital lip pits. These lip pits occur on paramedian portion of the vermillion border of the lip. In VWS, congenital lip pits occur in concurrence with cleft lip and/or cleft palate and represent the most common clinical problem occurring in 80% of the patients. Lip pits result due to notching of the lips at an early stage of development with fixation of tissues at the base of the notch or they may result from a failure of complete union of embryonic lateral sulci of lip. Single lip sinuses without any cleft syndrome are rare; lower lip fistulas in VWS are generally asymptomatic, and surgical management is usually accomplished because of aesthetic concerns. However, in some cases, patients may complain of watery drainage or hypotonia of the lower lip. Herein, the authors report a novel frameshift mutation in IRF6 gene which may contribute to better understanding the genetic aspect of VWS. SN - 1536-3732 UR - https://www.unboundmedicine.com/medline/citation/31299817/Van_der_Woude_Syndrome_With_a_Novel_Mutation_in_the_IRF6_Gene_ L2 - http://dx.doi.org/10.1097/SCS.0000000000005552 DB - PRIME DP - Unbound Medicine ER -