Indian Journal of Dental Research

SHORT COMMUNICATION
Year
: 2013  |  Volume : 24  |  Issue : 3  |  Page : 387--389

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


Chandramani B More1, Saurabh Varma1, Mansi Tailor2, Khushbu Bhavsar1,  
1 Department of Oral Medicine and Radiology, K.M. Shah Dental College and Hospital, Sumandeep Vidyapeeth University, Piparia, India
2 Department of Oral Medicine and Radiology, M.P. Patel Dental College and Hospital, Munjmahuda, Vadodara, Gujarat, India

Correspondence Address:
Chandramani B More
Department of Oral Medicine and Radiology, K.M. Shah Dental College and Hospital, Sumandeep Vidyapeeth University, Piparia
India

Abstract

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.



How to cite this article:
More CB, Varma S, Tailor M, Bhavsar K. Van der Woude syndrome: Report of two cases with supplementary findings.Indian J Dent Res 2013;24:387-389


How to cite this URL:
More CB, Varma S, Tailor M, Bhavsar K. Van der Woude syndrome: Report of two cases with supplementary findings. Indian J Dent Res [serial online] 2013 [cited 2021 Sep 19 ];24:387-389
Available from: https://www.ijdr.in/text.asp?2013/24/3/387/118015


Full Text

Van der Woude syndrome (VWS), also known as lip pit syndrome or cleft lip syndrome, is a rare developmental congenital malformation with an autosomal dominant disorder. [1],[2],[3],[4],[5] The presence of labial pits was first observed by Demarquay in 1845 and was first reported by Epstein in 1900. [5] Anne Van der Woude in 1954 extensively reviewed the syndrome that later received her name. [1] VWS is characterized by orofacial manifestations like lower lip pits, cleft lip with or without cleft palate, isolated cleft palate, hypodontia, cleft or bifid uvula, syngnathia, narrow high arched palate, ankyloglossia and hyper nasal voice. [6] The extra-oral manifestations include limb anomalies, popliteal webs, accessory nipples, congenital heart defects and Hirschsprung disease. [1],[6],[7]

This article describes two interesting cases of VWS with characteristic orofacial features. 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.

 Case Reports



Case 1

A 12-year-old girl reported for routine dental check up with a past medical history of surgical correction for congenital upper cleft lip and palate. Her parents had history of consanguineous marriage and was the only child. Her mother also had history of surgical correction for congenital cleft lip and palate. She had short stature, subnormal IQ and hyper nasal voice. The extra-oral examination revealed straight facial profile, hypertelorism, saddle nose, bilateral paramedian lower lip pits, bilateral commissural pits and surgical scar for the upper cleft lip. The depth of lip and commissural pits were assessed by diagnostic probe and were patent and had watery secretion [Figure 1]a. On intraoral examination, surgical graft along with scar in certain areas of hard palate [Figure 1]b, narrow high arched palate, over retained deciduous teeth, congenitally missing permanent maxillary both lateral incisors (hypodontia) and ankyloglossia was observed. The clinical diagnosis of VWS syndrome was made. The patient is currently being treated by a team comprising of stomatologist, orthodontist, plastic surgeon and psychologist, giving prime consideration to growth and development of the facial structures, esthetics along with psychological support.{Figure 1}

Case 2

A 10-year-old girl reported for the treatment of congenital cleft palate. Her medical history was non-contributory. Her parents had history of consanguineous marriage and was the only child, born after an uneventful full-term pregnancy. Her mother had history of ankyloglossia and partial anodontia. She had short stature, normal IQ and with hyper nasal voice. The extraoral examination revealed straight facial profile, saddle nose, bilateral paramedian lower lip pits and bilateral commissural pits. The depth of lip pits were assessed by diagnostic probe and were patent [Figure 2]a. On intraoral examination, discontinuous two separate clefts on the hard palate [Figure 2]b, mixed dentition, congenitally missing permanent maxillary left lateral incisor (hypodontia) and ankyloglossia was observed. The clinical diagnosis of VWS syndrome was made. Unfortunately patient was lost for the follow-up.{Figure 2}

 Discussion



VWS has a high penetrance, variable expressivity and may develop as a spontaneous mutation. [1],[2],[3],[4] It is thought that genetic defect of lip pits is due to a microdeletion on chromosome bands 1q 32-q41.10. Mutations in the interferon regulatory factor 6 (IRF6) gene is thought to cause VWS. [8] So far, 46 mutations in IRF6 associated with VWS have been identified. VWS occurs with an incidence of approximately 1 in every 1,00,000-2,00,000 people. [1],[6] As reported in the literature, the prevalence of VWS among orofacial cleft populations ranges from 0.37% to 6% with a higher prevalence in females. [2],[5],[6] Incidentally, both the present cases were also female. We also noticed that in both the cases, parents had history of consanguineous marriage. The risk of birth defects is higher in consanguineous marriage because there is greater chance of two related individuals sharing a common harmful gene and passing it to the child. The risk and type of birth defects in consanguineous marriage varies according to how closely the couple is related and thus the chance of inheriting a recessive disorder is increased. During the history taking, we also came across that the mother of Case 1 had cleft lip and palate and mother of Case 2 had partial anodontia and ankyloglossia.

The present cases exhibits a peculiar combination of more or less all traits associated with VWS with an unusual additional finding of bilateral commissural pits. This finding may be a coincidence and may or may not be related to the VWS.

The lip or labial pits are localized bilaterally and symmetrically as paramedian depressions on each side of the midline of the lower lip on the border between the vermilion and the mucosa. [5] Lip pit is the main manifestation of VWS and they occur in 88% of affected individuals. [6] The lip pits form canals, lined by labial mucosa, which extend inside the orbicularis oris muscle, their length being between 1 and 25 mm. These depressions are on a blind fundus or have minor salivary glands in their inner part. [5],[8] The presence of minor salivary glands or communication with salivary ducts is easily recognized by spontaneous or induced discharges of saliva or mucus with pressure; [5] as also noticed in the present cases. According to Schinzel and Kläusler, the lip pits are associated with clefts in about half the patients. Among these, two-thirds have cleft lip or cleft lip palate and one-third have cleft palate alone. [7],[8]

Congenital lower lip pits also occur in three other syndromes: The Popliteal pterygium syndrome (lower lip pits, oral clefts, syngnathia, popliteal web, toenail dysplasia, syndactyly of the toes, congenital heart disease and genital abnormalities); the Oro-facial-digital syndrome type I (lip pits, oral frenula, oral clefts, hypoplasia of nasal cartilages, malformations of the hands, hypertelorism and psychomotor retardation); and the Kabuki make-up syndrome (dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation and unusual dermato-glyphic patterns). [6]

Proper evaluation and treatment of VWS along with genetic counseling is important. Care should be taken during the surgical procedure for lip pits, of complete excision of the fistulous or sinus tract, which otherwise may lead to formation of mucoid cyst. Patients who do not undergo surgical correction should be instructed about meticulous hygiene care. [8]

 Conclusion



Congenital lip pits constitute a rare developmental malformation, transmitted by an autosomal dominant mode, with considerable heterogeneity as regards the expression of the disorder. Bilateral commissural pits may be considered as an additional feature of VWS.

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