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Lower lip pits in a patient with van der Woude syndrome.
J Craniofac Surg. 2010 Sep; 21(5):1380-1.JC

Abstract

van der Woude syndrome (VWS) is a congenital malformation characterized by lower lip pits with or without cleft lip or cleft palate. It is an autosomal-dominant inherited disorder with variable expression in clinical manifestation. Microdeletion in chromosome bands 1q32-q41 and recently identified mutation in interferon regulatory factor 6 gene (IRF6) have been reported to cause VWS. We report a case of VWS with lower lip pits as its main clinical manifestation without associated cleft in lip or palate. No mutation or deletion was found in the IRF6 gene or promoter site, indicating the heterogeneity of this defect.

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Authors+Show Affiliations

Baghestani S
Department of Dermatology, Hormozgan University of Medical Sciences, Bandar Abbas, Iran. swt_f@yahoo.com
Sadeghi N
No affiliation info available
Yavarian M
No affiliation info available
Alghasi H
No affiliation info available

MeSH

Cleft LipCleft PalateFemaleHumansInterferon Regulatory FactorsLipMaxillofacial AbnormalitiesSyndromeYoung Adult

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20818247

Citation

Baghestani, Shahram, et al. "Lower Lip Pits in a Patient With Van Der Woude Syndrome." The Journal of Craniofacial Surgery, vol. 21, no. 5, 2010, pp. 1380-1.
Baghestani S, Sadeghi N, Yavarian M, et al. Lower lip pits in a patient with van der Woude syndrome. J Craniofac Surg. 2010;21(5):1380-1.
Baghestani, S., Sadeghi, N., Yavarian, M., & Alghasi, H. (2010). Lower lip pits in a patient with van der Woude syndrome. The Journal of Craniofacial Surgery, 21(5), 1380-1. https://doi.org/10.1097/SCS.0b013e3181edc528
Baghestani S, et al. Lower Lip Pits in a Patient With Van Der Woude Syndrome. J Craniofac Surg. 2010;21(5):1380-1. PubMed PMID: 20818247.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lower lip pits in a patient with van der Woude syndrome. AU - Baghestani,Shahram, AU - Sadeghi,Naser, AU - Yavarian,Majid, AU - Alghasi,Hekmat, PY - 2010/9/7/entrez PY - 2010/9/8/pubmed PY - 2011/2/5/medline SP - 1380 EP - 1 JF - The Journal of craniofacial surgery JO - J Craniofac Surg VL - 21 IS - 5 N2 - van der Woude syndrome (VWS) is a congenital malformation characterized by lower lip pits with or without cleft lip or cleft palate. It is an autosomal-dominant inherited disorder with variable expression in clinical manifestation. Microdeletion in chromosome bands 1q32-q41 and recently identified mutation in interferon regulatory factor 6 gene (IRF6) have been reported to cause VWS. We report a case of VWS with lower lip pits as its main clinical manifestation without associated cleft in lip or palate. No mutation or deletion was found in the IRF6 gene or promoter site, indicating the heterogeneity of this defect. SN - 1536-3732 UR - https://www.unboundmedicine.com/medline/citation/20818247/Lower_lip_pits_in_a_patient_with_van_der_Woude_syndrome_ L2 - https://doi.org/10.1097/SCS.0b013e3181edc528 DB - PRIME DP - Unbound Medicine ER -