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.
Links
MeSH
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 -