Detection of MSX1 gene mutations in patients with congenital tooth loss in Van der Woude syndrome / 口腔疾病防治

Objective@#To explore the relationship between MSX1 gene detection and tooth loss in a Van der Woude syndrome (VWS) family @* Methods @# DNA was extracted from the venous blood of 2 patients with dental hy⁃podontia in the 9th family of Van der Woude syndrome (VWS) families and 62 controls with complete dentition. Primers were designed for the MSXl gene. The coding regions of exons 1 and 2 of the MSX1 gene were amplified by PCR. The purified products of exons 1 and 2 of the MSX1 gene were sequenced and analyzed by sequence alignment @*Results@#The ivs2+68 C>T polymorphism in the MSX1 gene was found in the VWS9 members with tooth loss, and the VWS pa⁃tients with IRF6 gene mutations had increased tooth loss@* Conclusion@#Congenital tooth loss in the patients with con⁃genital missing teeth in VWS family 9 may be related to the ivs2 + 68 C> T polymorphism of the MSX1 gene.

Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation / 华西口腔医学杂志

OBJECTIVE@#This study aimed to investigate the clinical phenotype and genetic characteristics of Chinese families with Van der Woude syndrome (VWS).@*METHODS@#Clinical manifestations between 14 families and within each family were recorded. Possible inheritance modes and pathogenic genes were analyzed. Phenotypic distribution and gene frequencies were calculated.@*RESULTS@#Of the pedigrees investigated, an autosomal dominant inheritance pattern was suggested. All patients had typical symptoms. The pathogenic gene was interferon regulatory factor 6 (IRF6). Phenotypic distribution frequencies were as follows: lip pits (91.9%), cleft lip and/or palate (73.0%), and hyperdontia (8.1%). There were significant differences in clinical phenotypes among individuals of different families and individuals of the same family.@*CONCLUSIONS@#VWS in a Chinese population was dominantly inherited with high penetrance and variable expressivity. The pathogenic gene was IRF6. VWS in a Chinese population was genotyped as VWS1.

Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report

Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot.

Van der Woude syndrome: Report of two cases with supplementary findings.

Van der Woude syndrome (VWS) is a rare developmental disorder with an autosomal dominant inheritance and variable expressivity, occurring in about 1 of every 1,00,000-2,00,000 people. This syndrome is remarkably variable. It is characterized by orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, hypodontia, cleft or bifid uvula, syngnathia, narrow high arched palate, ankyloglossia and hyper nasal voice. We report two interesting cases of VWS with characteristic orofacial features and an unusual additional finding of bilateral commissural pits. The purpose of this article is to facilitate understanding of etio-pathogenesis, clinical manifestations, role of genetic counseling and with special emphasis on commissural pits as an additional feature in VWS.

Van der woude syndrome - case report.

Genes contains the blue prints for human growth and development. Van der Woude syndrome is a developmental disorder characterized by lip pits on lower lip, cleft palate alone or with cleft lip in some cases & missing teeth. The features of VWS are discussed here with a case report. Bilateral lip pits with submucous cleft palate and bifid uvula were appreciated in the case.

A Case of Van der Woude Syndrome / 대한이비인후과학회지

Van der Woude syndrome is a rare developmental malformation characterized by pits in the lower lip, usually bilateral and located on either side of the midline, cleft lip with or without cleft palate, cleft uvula. This malformation have autosomal dominant inheritance with 80% to 100% penetrance and variable expressivity. Lip pits are also found in association with ankyloblepharon, popliteal pterygium, syndactyly, missing teeth etc. The treatment of lower lip fistulas is simple surgical excision. We experienced a patient with Van der Woude syndrome, who had bilateral lower lip pits with a submucous cleft palate. So we present Van der Woude syndrome and discuss the treatment with a review of literature.