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 Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 6  |  Issue : 1  |  Page : 26-29

Van der Woude syndrome with unusual developmental disorders


1 Department of Oral Medicine and Radiology, PMNM Dental College and Hospital, Bagalkot, India
2 Department of Oral Medicine and Radiology, JSS Dental College and Hospital, Mysore, Karnataka, India

Date of Web Publication5-Sep-2014

Correspondence Address:
Vijay Kumar Ambaldhage
Department of Oral Medicine and Radiology, PMNM Dental College and Hospital, Bagalkot, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2249-4987.140206

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  Abstract 

Van der Woude syndrome is a rare developmental disorder characterized by a combination of congenital lower lip pits, cleft palate alone or with cleft lip in some cases, and hypodontia. It occurs in approximately 2% of the population with facial clefts. Its prevalence varies from one in 100,000 to 200,000 births. This case report details a unique case of Vander Woude syndrome in a seven-year-old girl and her mother, with median lip pits, cleft lip and cleft palate, missing lateral incisors, and retained deciduous teeth, along with transposition of teeth.

Keywords: Cleft lip, cleft palate, congenital lip pits, hypodontia, transposition


How to cite this article:
Ambaldhage VK, Puttabuddi JH. Van der Woude syndrome with unusual developmental disorders. J Oral Res Rev 2014;6:26-9

How to cite this URL:
Ambaldhage VK, Puttabuddi JH. Van der Woude syndrome with unusual developmental disorders. J Oral Res Rev [serial online] 2014 [cited 2019 Jul 16];6:26-9. Available from: http://www.jorr.org/text.asp?2014/6/1/26/140206


  Introduction Top


The Van der Woude syndrome (VDWS) is a dominantly inherited developmental disorder that was first described by Anne Van der Woude in 1954. It is a rare autosomal dominant craniofacial disorder characterized by lower lip pits, cleft lip, and/or cleft palate. [1] The genetic locus has been mapped to 1q32-q41, but the VDWS gene has not been isolated. [2] The prevalence varies from one in 100,000 to 200,000 births. [3] No significant difference between genders has been reported. [2] The most common clinical features include congenital lip pits, associated with cleft lip or palate, either unilateral or bilateral. A submucous cleft of soft palate is common, with a hypernasal voice. Missing incisors or premolars is also a common finding. [3] Additional oral manifestations include syngnathia, a narrow high-arched palate, and ankyloglossia. [4] Other anomalies, besides the oral manifestations, like limb anomalies, popliteal webs, brain abnormalities, accessory nipples, and congenital heart defects are also seen. [3],[5] The present case is unique because, along with classical features our patient presented with transposition of teeth.


  Case Report Top


A seven-year-old girl reported with a complaint of difficulty in oral intake of food and liquids due to a cleft in the upper jaw. There was a history of multiple episodes of respiratory tract infections, breathlessness, nasal regurgitation of food, and a nasal twang in the voice. Her history revealed that she was delivered through a Cesarean section. The maternal history revealed no history of medication or illness during pregnancy. Her family history revealed that her mother also had a similar cleft of the palate with two pits in the center of the lower lip since birth and there was no history of cleft lip or palate in other family members.

An extraoral examination of the child revealed surgical scars of a corrected cleft lip, with two small pits in the center of the lower lip [Figure 1]. They just manifested as two simple depressions. When the lower lip was compressed, thick mucus secretion was expressed from both the lip pits. Intraoral examination revealed bilateral clefts of the premaxilla and a median cleft of the hard palate [Figure 2]. The uvula was completely absent with a submucous cleft of the soft palate [Figure 3]. The maxillary left incisor was missing clinically. Radiographic examination revealed a diffuse radiolucent defect in the anterior maxilla, suggestive of a cleft, crowding of the maxillary anterior teeth, and a missing maxillary left incisor. All other teeth were in normal developmental stages and there was no abnormality in the skeletal growth of the jaws [Figure 4].
Figure 1: Bilateral median lip pits on lower lip; surgical scars of the operated cleft in the upper lip

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Figure 2: Cleft of premaxilla and hard palate

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Figure 3: Submucosal cleft of the soft palate and absence of the uvula

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Figure 4: An orthopantomogram (OPG) showing a defect in the premaxilla; crowding of maxillary anterior teeth; missing left central incisor

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The child's mother also revealed similar clinical findings ― median lip pits of the lower lip. An intraoral examination of the mother revealed a surgical scar of the corrected cleft of the hard palate, missing uvula, and a submucous cleft of the soft palate [Figure 5]. On hard tissue examination, it was seen that the right deciduous canine was retained, with bilateral missing maxillary lateral incisors, and transposition of the right maxillary canine and first premolar [Figure 6]. An intraoral periapical radiograph of the right maxillary region confirmed complete transposition of the canine and first premolar [Figure 7].

All the teeth with caries were treated appropriately in the child. The child had already undergone surgical correction of the cleft lip and was referred to higher centers for surgical correction of the cleft palate. Meanwhile the child was instructed to maintain good oral hygiene. As the patient's mother had no discomfort or esthetic concern about the lip pits, retained deciduous teeth or transposition, no treatment was done for the same.
Figure 5: Photographs of the patient's mother, showing bilateral paramedian lip pits; submucosal cleft of the soft palate; surgical scar of the operated cleft in the hard palate

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Figure 6: Transposition of the right canine and first premolar, retained right deciduous canine, and bilaterally missing lateral incisors

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Figure 7: An intraoral periapical radiograph (IOPAR) showing complete transposition of the canine and first premolar and the retained deciduous canine

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  Discussion Top


When congenital lip pits occur in association with cleft lip and/or palate, the condition is referred to as Van der Woude Syndrome (VDWS). These cardinal clinical features of the VDWS are well documented in literature. Hypodontia is considered as a cardinal associated feature in 10-81% of all VDWS patients. [3],[6] In the present case, the child had a missing maxillary left central incisor and in the mother, the maxillary lateral incisors were missing bilaterally. In addition to these classical clinical features, transposition of teeth and retained deciduous teeth were observed. These features indicate the variable clinical presentation of this syndrome.

The prevalence of tooth transposition in the general population is less than 1%. [7] As the canine tooth has a long path of eruption, it is theoretically more susceptible to deflection during its long eruptive descent, and is frequently associated with transposition. Opinions differ as to the relative contribution of genetics and environment in this eruptive process. In the non-syndromic forms of the cleft lip and palate, both genetic mutations and environmental factors seem to play a role in defining the susceptibility of the affected individuals. [7] Thus, in our case the transposition could be due to the genetic or environmental factors and may not be necessarily related to VDWS.

In fact, there has been very little research on transposition of teeth in individuals with VDWS. Few studies have revealed the presence of this condition in Down's syndrome (DS). Shapira et al. evaluated 34 individuals with DS and observed the presence of tooth transposition involving canines and first premolars in 15% of the cases. [8] In a study by Talitha et al., tooth transposition occurred in 3.1% of . Brazilian individuals with DS. [7]

Lip pits are inherited as an autosomal dominant trait, their pathogenesis is not well understood. They are thought to develop from notching of the lip at an early stage of lip development, with fixation of the tissue at the base of the notch, or from failure of a complete union of the embryonic lateral sulci of the lip, which persists and ultimately develops into typical pits. [2] A single median or paramedian lip pit is considered as an incomplete expression of the trait, whereas, bilateral lip pits are features of complete expression. These pits may have a depth of 0.5 to 2.5 cm, and the adjacent small salivary glands empty into these pits. [9] In the present case, thick mucus secretion is expressed from both the lip pits, and bilateral median lip pits are present, denoting the complete expression of this condition.

Congenital lip pits are seen in various other syndromes like popliteal pterygium syndrome, Type-1 orofaciodigital syndrome, Kabuki makeup syndrome, alveolar synechia syndrome, and so on. [6] Thus, the differential diagnosis should include the popliteal pterygium syndrome (popliteal webs, cleft lip/palate, lower lip pits, anomalies of the urinary tract, bifid scrotum in males, and hypoplastic labia majora and uterus in females) and orofaciodigital syndrome (orofacial features of cleft palate, bifid tongue, hypodontia, lip pits, and so on, with digital, renal, and central nervous system abnormalities). [6],[9]

Management of VDWS is mainly focused on the surgical correction of clefts and lip pits. Surgical excision of the labial and commissural pits is indicated, if the esthetics of the individual is appreciably affected and exudation of the mucous secretions cannot be controlled. Surgical excision should include a total removal of the minor salivary glands that exude secretions at the base of the pits, to prevent the formation of a mucocele or cyst. [5],[8]


  Conclusion Top


The Van der Woude syndrome is a rare condition - the phenomenon of a cleft lip and cleft palate combined in the same pedigree makes it unique. The VDWS should be considered in the differential diagnosis of cleft lip and palate. The dentist may be the first person to diagnose this syndrome, and therefore, should be aware of its variable expressions. A proper treatment plan at the correct time will help to satisfy the psychological and esthetic needs of the patients. Further, genetic counseling is highly recommended.

 
  References Top

1.Dhaval N. Mehta, Ketaki N. Gandhi. Van der woude syndrome - case report. Annals and Essences of Dentistry 2010;2:24-6.  Back to cited text no. 1
    
2.Ziai MN, Benson AG, Djalilian HR. Congenital lip pits and van der Woude syndrome. J Craniofac Surg 2005;16:930-2.  Back to cited text no. 2
    
3.Soni R, Vivek R, Srivastava A, Singh A, Srivastav S, Chaturvedi TP. Van der Woude syndrome associated with hypodontia: A rare clinical entity. Case Rep Dent 2012;2012:283946.  Back to cited text no. 3
    
4.Rizos M, Spyropolous MN. Van der Woude syndrome: A review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic councelling and treatment. Eur J Orthod 2004;26:17-24.  Back to cited text no. 4
    
5.Shprintzen RJ, Goldberg RB, Sidoti EJ. The penetrance and variable expression of the Van der Woude syndrome: Implications for genetic counseling. Cleft Palate J 1980;17:52-7.  Back to cited text no. 5
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6.Arangannal P, Muthu MS, Nirmal L. Van der Woude syndrome: A case report. J Indian Soc Pedod Prev Dent 2002;20:102-3.  Back to cited text no. 6
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7.Cho SY, Chu V, Ki Y. A retrospective study on 69 cases of maxillary tooth transposition. J Oral Sci 2012;54:197-203.  Back to cited text no. 7
    
8.Mellara TS, Pardini LC, Paulo Nelson-Filho, Bezerra da Silva RA, Assed da Silva L, Musolino de Queiroz A. Occurrence of hypodontia, supernumerary teeth and dental anomalies in Brazilian individuals with Down syndrome. Journal of Disability and Oral Health 2011; 12:31-4.  Back to cited text no. 8
    
9.Onofre MA, Brosco HB, Taga R. Ultra structural analysis of glands located in the wall of the congenital fistulae of the lower lip of patients with Van der Woude syndrome. J Appl Oral Sci 2003;11:192-202.  Back to cited text no. 9
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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