|Year : 2017 | Volume
| Issue : 1 | Page : 55-57
Rare presentation of Van der Woude syndrome in a mother and child: A case report from Sub-Saharan Africa
Abdurrazaq Olanrewaju Taiwo1, Ramat Oyebunmi Braimah2, Adebayo Aremu Ibikunle2, Amidu Omotayo Sulaiman3
1 Department of Surgery/Dental and Maxillofacial Surgery, College of Health Sciences, Usmanu Danfodiyo University/Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria
2 Department of Dental and Maxillofacial Surgery, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria
3 Department of Restorative Dentistry, Faculty of Dentistry, College of Medicine, University of Ibadan/University College Hospital, Ibadan, Nigeria
|Date of Web Publication||14-Feb-2017|
Ramat Oyebunmi Braimah
Department of Dental and Maxillofacial Surgery, Usmanu Danfodiyo University Teaching Hospital, PMB 12003, Sokoto
Source of Support: None, Conflict of Interest: None
Van der Woude syndrome (VWS) is a very rare congenital abnormality with high degree of penetrance and variable phenotypic expression. Common phenotypic features reported in the literature include bifid uvula, submucous cleft palate, or cleft palate to incomplete and complete unilateral or bilateral cleft lip and palate with lower lip pits as cardinal feature. Bilateral, single median or paramedian pits have been reported. We present an unusual VWS in both mother and child with the mother presenting with double bilateral (four) lower lip pits.
Keywords: Bifid uvula, lip pits, Van der Woude syndrome
|How to cite this article:|
Taiwo AO, Braimah RO, Ibikunle AA, Sulaiman AO. Rare presentation of Van der Woude syndrome in a mother and child: A case report from Sub-Saharan Africa. Saudi J Oral Sci 2017;4:55-7
|How to cite this URL:|
Taiwo AO, Braimah RO, Ibikunle AA, Sulaiman AO. Rare presentation of Van der Woude syndrome in a mother and child: A case report from Sub-Saharan Africa. Saudi J Oral Sci [serial online] 2017 [cited 2019 Sep 16];4:55-7. Available from: http://www.saudijos.org/text.asp?2017/4/1/55/200140
| Introduction|| |
Van der Woude syndrome (VWS) is a rare congenital malformation with autosomal dominant inheritance, high degree of penetrance, and unpredictable expressivity. It wasfirst reported by Van der Woude in 1954. Lower lip pit(s) and cleft lip and palate are the cardinal features of this syndrome. The prevalence rate is 1/40,000 people worldwide in stillborn or live births with equal sex predilection. It is also one of the most common syndromic cleft, accounting for 2% of all orofacial clefts.
Phenotypic expression of this syndrome ranges from bifid uvula, submucous cleft palate, or cleft palate to incomplete and complete unilateral or bilateral cleft lip and palate. Mutations in the IRF6 gene (OMIM: 607199) have been reported worldwide to cause VWS in exons 3, 4, 7, and 9. In African population specifically, Butali et al. reported a novel nonsense variant in exon 4 (p. Lys66X), a novel splice-site variant in exon 4 (p. Pro126Pro), a novel missense variant in exon 4 (p. Phe230Leu), a previously reported splice site variant in exon 7 that changes the acceptor splice-site, and a known missense variant in exon 7 (p. Leu251Pro). Management of this condition includes repair and reconstruction of the cleft lip and/or palate, sinus excision, and plasty of the lower lip. Indications for lip pits excision include repeated infections or for cosmetic reasons. We report a rare phenotypic expression of VWS in both mother and child in Sub-Saharan African population.
| Case Report|| |
A 5-month-old male infant was referred to the Department of Dental and Maxillofacial Surgery, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria, from a district health facility with the complaint of unaesthetic appearance of the lower lips and milk regurgitation through the nose from birth. The family history did not reveal consanguineous marriage of his parents; however, there is positive history of clefting in the maternal family. The patient siblings were apparently healthy. According to his mother, the patient was born by spontaneous vaginal delivery at home after an uneventful, full-term pregnancy with no radiation exposure. General physical examination of the patient was noncontributory. Extraoral examination revealed bilateral paramedian pits, symmetrically seen on either side of the midline on the lower lip [Figure 1]. Lip pits were completely asymptomatic, and there was no discharge or secretions. Intraoral soft tissue examination revealed bifid uvula, isolated cleft of the soft palate [Figure 2]. The patient had the palatal cleft repaired at 18 months.
|Figure 1: Clinical photograph of the child showing bilateral lower lip pits (black arrows)|
Click here to view
On examination of the mother, there were double, bilateral, asymptomatic paramedian lower lip pits different to that of the child [Figure 3]. She claimed that it has been present since birth. There were no associated intraoral findings.
|Figure 3: Photograph of the mother showing four lower lip pits (black arrows)|
Click here to view
| Discussion|| |
Lip pits are inherited as an autosomal dominant trait and their pathogenesis still remains obscure. They are believed to arise from notching of the lip at an early stage of the labial 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 persist and finally develop into the typical pits. A single median or paramedian lip pit is considered as incomplete expression of trait, whereas bilateral lip pits are features of complete expression. In the present case, bilateral symmetrical paramedian lip pits are present in both the mother and child denoting the complete expression of this condition. In the mother, additional pits were noticed bilaterally making a total of two pits bilaterally [Figure 3]. This number of lip pits (four) has not been reported as a feature seen in VWS. We then speculate that there may be a unique gene in this patient that is different from reported genes responsible for VWS.
It has been reported that the dimples are usually circular, transverse slits or sulci. A unique presentation was also found in the mother and child. The child's lower lip pits are slit-like while the mother lip pits are circular. Literature is scarce on the possible factor for the shape of the lip pits; however, we opined that genetic factor may play a role. Most of the lip pits were reported to be located in the lip vermilion and on the mucocutaneous line at a distance of about 5–25 mm from each other. The lip pits in the present case in both patients were also located in the vermilion. Although hypodontia is well thought-out as leading associated feature in about 10%–81% of all VWS patients, the mother did not have any missing teeth and the child was still edentulous. This is because hypodontia may not be obvious at presentation due to the fact that many of the patients present during preeruption age.
Cleft lip only clinical phenotype of VWS is very rare; both mother and child in the present case have no cleft lip. This finding is similar to those of previous studies that reported no cases or very low prevalence of the cleft lip only clinical phenotype. This is however different from a study by Onofre et al. that reported 16% of a South American VWS sample had a cleft lip anomaly. Schinzel and Kläusler have reported that 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. The baby had cleft palate with bifid uvula, whereas the mother had neither cleft palate nor submucous cleft. In addition, the baby had no developmental milestone problem. Congenital lower lip pits have also been reported to occur in three other syndromes: Popliteal pterygium syndrome (lower lip pits, oral clefts, syngnathia, popliteal web, toenail dysplasia, syndactyly of the toes, congenital heart disease, and genital abnormalities); orofacial-digital syndrome Type I (lip pits, oral frenula, oral clefts, hypoplasia of nasal cartilages, malformations of the hands, hypertelorism, and psychomotor retardation); and Kabuki makeup syndrome (dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns). None of these features were seen in both mother and child in the present case; however, the presence of four lower lip pits in the mother may be another phenotype of VWS not reported in the literature.
| Conclusion|| |
The exceedingly variable phenotypic appearance of VWS is demonstrated by the wide range of clefting phenotypes. The distribution of lip pits phenotypes in this case report was not consistent with that reported in the literature as the mother presented with four pits (two each bilaterally). This rare presentation further depicts wide range of presentation of lip pits in VWS. Genetic study on this family is already underway to identify any specific genetic abnormality that is different from previously identified mutations in the African population.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Lam AK, David DJ, Townsend GC, Anderson PJ. Van der Woude syndrome: Dentofacial features and implications for clinical practice. Aust Dent J 2010;55:51-8.
Van der Woude A. Fistula labii inferioris congenita and its association with cleft lip and palate. Am J Hum Genet 1954;6:244-56.
Butali A, Mossey PA, Adeyemo WL, Eshete MA, Gaines LA, Even D, et al.
Novel IRF6 mutations in families with Van der Woude syndrome and popliteal pterygium syndrome from Sub-Saharan Africa. Mol Genet Genomic Med 2014;2:254-60.
Malik S, Wilcox ER, Naz S. Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan. Clin Genet 2014;85:487-91.
Newman MA, Nartey N, Nyako E. Van der Woude syndrome: Report of a case. Ghana Med J 2005;39:68-70.
Rintala AE, Ranta R. Lower lip sinuses: I. Epidemiology, microforms and transverse sulci. Br J Plast Surg 1981;34:26-30.
James O, Adeyemo WL, Emeka CI, Ogunlewe MO, Ladeinde AL, Butali A. Van der Woude syndrome: A review of 11 cases seen at the Lagos University Teaching Hospital. Afr J Paediatr Surg 2014;11:52-5.
Onofre MA, Brosco HB, Taga R. Relationship between lower-lip fistulae and cleft lip and/or palate in Von der Woude syndrome. Cleft Palate Craniofac J 1997;34:261-5.
Moghe GA, Kaur MS, Thomas AM, Raseswari T, Swapna M, Rao L. The role of 9qh+in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree. J Indian Soc Pedod Prev Dent 2010;28:104-9.
Bardazzi F, Savoia F, Dika E, Rinaldi R. Van der Woude syndrome: A case report. Int J Dermatol 2006;45:299-301.
[Figure 1], [Figure 2], [Figure 3]