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| CASE REPORT |
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| Year : 2008 | Volume
: 20
| Issue : 3 | Page : 110-112 |
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Paramedian bilateral lip pits with sinuses (Van der Woude syndrome)
Thirupambaram Natarajasundaram Uma Maheswari, Gopal Maragathavalli, Nachimuthu Gnanasundaram
Department of Oral Medicine and Radiology, Saveetha Dental College and Hospitals, Saveetha University, Chennai, Tamil Nadu, India
| Date of Web Publication | 16-Jun-2009 |
Correspondence Address:
Thirupambaram Natarajasundaram Uma Maheswari
Saveetha Dental College and Hospitals, Saveetha University, Chennai, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0972-1363.52778
 Abstract | | |
Genes the basic units of heredity, contain blue prints for human growth and development. A change or alteration in a single gene on chromosome number causes one Van der Woude syndrome (VWS). Features of VWS include lip pits on the lower lip, cleft palate alone or with cleft lip in some cases, missing teeth, syngnathia and ankyloglossia. The features of VWS are discussed along with two clinical case presentations. Bilateral lip pits with sinuses, surgically corrected cleft lip, cleft palate and few missing teeth were appreciated in both the cases. Keywords: Cleft lip, cleft palate, lip pits and Van der Woude syndrome
How to cite this article:
Uma Maheswari TN, Maragathavalli G, Gnanasundaram N. Paramedian bilateral lip pits with sinuses (Van der Woude syndrome). J Indian Acad Oral Med Radiol 2008;20:110-2 |
How to cite this URL:
Uma Maheswari TN, Maragathavalli G, Gnanasundaram N. Paramedian bilateral lip pits with sinuses (Van der Woude syndrome). J Indian Acad Oral Med Radiol [serial online] 2008 [cited 2023 Feb 7];20:110-2. Available from: http://www.jiaomr.in/text.asp?2008/20/3/110/52778 |
| Introduction | |  |
The Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder that was first described by Anne Van der Woude in 1954. [1] VWS is a rare autosomal dominant craniofacial disorder characterized by lower lip pits, cleft palate and/or cleft lip. VWS is a form of syndromic orofacial clefting with very high penetrance and varied expressivity. [2]
Lower lip pits are the most frequently occurring congenital malformations. [3],[4] The classical type of lower lip pits is the bilateral paramedian sinuses of the lower lip, placed symmetrically on either side of the midline. [5] They can also be unilaterally, medially or bilaterally asymmetrical. The sinuses are located on the upper border of the lower lip or on any site from the vermilion border to the mucosal side of the lip in an anteroposterior direction. Most of them are located in the lip vermilion and on the mucocutaneous line at a distance of about 5-25 mm from each other.
Hypodontia may be rarely observed in some cases, it is present as missing maxillary or mandibular second premolars or maxillary lateral incisors. But Zuhal Kirzioglu [6] reported a case with supernumerary tooth in the maxilla. The other oral manifestations included with VWS are syngnathia (congenital adhesion of the jaws) and ankyloglossia (short glossal frenulum or tongue-tie).
The present article describes about two cases of VWS with sinuses in the lower lip, a cleft in the upper lip and palate associated with hypodontia.
| Case Reports | | |
Case 1
A 14-year-old boy reported to the Department of Oral medicine and Radiology with the complaint of unaesthetic appearance of lower lip since childhood. His past medical history was not significant. He had undergone surgical correction for cleft lip when he was one year old. No history of parental consanguineous marriage. His general examination was fair, systemic examination revealed no pathology.
On clinical examination, bilateral paramedian lip pits were seen on the lower lip. Surgical scar was seen on either side of the filtrum involving the upper lip [Figure 1]. Lip pits were associated with lip sinuses and salivary discharge was present. Probe can be passed into the pit up to 2 mm length [Figure 2] and [Figure 3]. Mild tenderness on palpation of lower lip was also elicited. Intraoral examination revealed no abnormal size and shape of the mouth. Intraoral examination revealed retained 52, 65, missing 12, crowding of maxillary teeth with absence of alveolar mucosa and underlying alveolar bone in 21, 22 region. Cleft was present in the midline of the hard palate extending from anterior alveolus up tomesial aspect of first molar region posteriorly [Figure 4].
In view of the presence of congenital paramedian lip pits, cleft palate and hypodontia with previous history of treated bilateral cleft upper lip, provisional diagnosis of VWS was given.
Case 2
10 year old boy reported with complaint of pain in the right lower posterior tooth of the jaw for the past 2 days and unaesthetic appearance of his lip since birth. Past medical history was not remarkable. Surgical correction of cleft lip and palate was done at the age of 6 and 8 months. History revealed that the boy was born to parents of first-degree consanguineous marriage. No significant systemic pathology was present.
Clinical examination revealed bilateral paramedian lip pits in the lower lip. Surgical scar was seen on either side of filtrum and on the left side, extension of the cleft up to the nasal cavity was evident. The lip tissue over the left central incisor was absent exposing the labial surface of left central incisor [Figure 5]. On palpation, salivary discharge can be seen from the lip pits.
Intraoral examination revealed no abnormal size and shape of the mouth. Missing 22, hypoplastic: 11, 21, DC: 54, 55, 36, 84 and 46. Dental caries with pulp involvement: 64 and 65. Malalignment of maxillary anteriors were also noticed. Absence of alveolar bone in 21 and 22 region. Cleft was seen in the labial sulcus in 11, 12 region and extends into the nasal cavity on the right side. Bilateral cleft was seen in the premaxillary region extending anteriorly up to 12, 22 region, posteriorly up to mesial aspect of 53, 63 region. Soft palate movements were normal [Figure 6].
| Discussion | | |
Congenital pits of the lower lip in association with clefting of the lip or palate or both occur in many syndromes. Although lip pits are suggestive of VWS, not all children with lip pits have the syndrome. In fact, commissural pits are not associated with VWS and are present in approximately 2% of neonates and may be associated with preauricular sinuses.
VWS should be differentially diagnosed from popliteal pterygium syndrome (PPS) which is also an autosomal dominant disorder with a similar orofacial phenotype but it includes skin and genital anomalies. [7]
The treatment of the VWS patients includes all necessary surgical and multidisciplinary procedures for the correction of serious anomalies including clefts. In case of the lip pits, they are excised by surgical procedures. In all cases, the excision of the sinus tract should be complete.
Genetic counseling is highly recommended for this abnormality. As this syndrome is associated with interferon regulatory factor 6 gene, the full family history is required before counseling can be given to patients.
| Conclusion | | |
Clefts of the lip/palate are associated with many syndromes. One such is Van der Woude syndrome (VWS). People with VWS have a 50% chance of passing the dominant altered gene on to each of their children, regardless of the sex of the child. They also have 50% chance of passing the normal gene to their children. Children who inherit the unaltered gene will not have VWS and thus cannot pass to the future children. The severity of VWS cannot be predicted even within a family. Early diagnosis helps a child in seeking early treatment such as timely surgery, speech therapy and dental care.
| References | | |
| 1. | Van der Woude A. Fistula labii inferioris congenital and its association with cleft lip and palate. Am J Hum Genet 1954;6:244-56.  [PUBMED] [FULLTEXT] |
| 2. | Maria R, Meropi NS. Van der Woude Syndrome: A review, Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counseling and treatment. Eur J Orthod 2004;26:17-24 |
| 3. | Watanbe Y, Otake MIH, Tomida K. Congenital fistulas of the lower lip. Oral Surg 1951;4:709-22. |
| 4. | Cervenka J, Gorlin RJ, Anderson VE. The syndrome of the pits of the lower lip and cleft lip and/or palate: Genetic considerations. Am J Hum Genet 1967;19:416-32. [PUBMED] [FULLTEXT] |
| 5. | Csiba A. Bilateral connate fistula of the lower lip. Oral Surg Oral Med Oral Pathol 1966;22:226-30. |
| 6. | Zuhal K, Municiye SO. Congenital lower lip pits (Van der Woude Syndrome): Report of a case. J Contemp Dent Pract 2006;7:1-3. |
| 7. | Sunil K, Shailesh P. Van der Woude syndrome. Indian Pediatr 2005;42:278. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
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