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CASE REPORT
Year : 2019  |  Volume : 22  |  Issue : 7  |  Page : 1026-1028

Oral and dental findings in Bardet–Biedl syndrome: A case report


Department of Dentomaxillofacial Radiology, Faculty of Dentistry, Gaziantep University, Şehitkamil, Gaziantep, Turkey

Date of Acceptance04-Feb-2019
Date of Web Publication11-Jul-2019

Correspondence Address:
Dr. E D Yalcin
Department of Dentomaxillofacial Radiology, Faculty of Dentistry, Gaziantep University, Şehitkamil 27410, Gaziantep
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/njcp.njcp_615_18

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   Abstract 


Bardet–Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. This syndrome is associated with 19 genes present, and 80% of the cases are determined as a clinical diagnosis result. A 15-year-old female presented with a complaint of gingival bleeding during brushing. As a result of received detailed history and the intraoral–extraoral examinations; retinal dystrophy, obesity, polydactyly, and renal defects of Caucasian female consistent with BBS were reported. Oral and dental findings were high-arched palate, crowding, and missing tooth. As dentists, we should know the diagnostic criteria of this syndrome. In addition, we should have a high index of suspicion so as to enhance the timely recognition of this condition. Dentists should also be familiar with the management protocol that includes a multidisciplinary approach to alleviate the existing conditions.

Keywords: Bardet–Biedl syndrome, dental findings, oral findings, panoramic radiography


How to cite this article:
Yalcin E D, Ararat E. Oral and dental findings in Bardet–Biedl syndrome: A case report. Niger J Clin Pract 2019;22:1026-8

How to cite this URL:
Yalcin E D, Ararat E. Oral and dental findings in Bardet–Biedl syndrome: A case report. Niger J Clin Pract [serial online] 2019 [cited 2019 Jul 20];22:1026-8. Available from: http://www.njcponline.com/text.asp?2019/22/7/1026/262532




   Introduction Top


Bardet–Biedl syndrome (BBS) is an uncommon autosomal recessive abnormality with different clinical symptoms and genetic variations.[1] Its prevalence varies markedly between populations representing a high prevalence in consanguineous marriage.[1] This syndrome was first defined by G. Bardet and A. Biedl in the 1920s [1] with features including renal dysfunction, obesity, retinal dystrophy, polydactyly, learning disability, cognitive defects, genital, cardiac, and dental anomalies.[2] BBS is a piece of genetic disorders of cilia function and mutations of 19 genes.[3] The major clinical diagnostic features are genital anomalies, retinal dystrophy, obesity, polydactyly, renal defects, and learning difficulties.

On the contrary, development delay, learning difficulties, facial dysmorphism, neurological deficits, dental anomalies, diabetes mellitus, and hypertension are minor diagnostic features.[2] For the diagnosis of this syndrome, at least four major or three major and two minor features must be found in the patient.[2] Among these findings, only postaxial polydactyly is apparent at birth. The most common cause of death in patients with BBS is renal failure.[4]

Oral and dental divergencies including hypodontia, high-arched palate, crowding, microdontia, and shortened roots are minor diagnostic criteria for this syndrome.[2] The knowledge of oral and dental abnormalities may help to distinguish BBS from Alstrom and McKusick– Kaufman syndrome More Detailss.[5] There are many studies on metabolic, cardiac, and renal complications of this syndrome, but there is a limited number of publications including dental anomalies.

Therefore, this case report aims to present the clinical and radiological findings of a 15-year-old female patient with Bardet–Biedl Syndrome, purposing to help the dentists to determine the general appearances, systemic alterations, and extraoral and intraoral manifestations of this rare syndrome.


   Case Reports Top


A 15-year-old Caucasian female who was obtained informed consent referred to the Gaziantep University Faculty of Dentistry Department of Dentomaxillofacial Radiology on account of gingival bleeding during brushing. The patient was born as a result of consanguineous marriage. She presented with six polydactylies in the left foot and right hand. The sixth toe of the left foot and right hand were operated at the 15th month after birth [Figure 1].
Figure 1: Operated polydactyly right hand

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BBS was diagnosed when she was 5 years old. She suffered from early onset of renal disorder and obesity for 5 years. Other family members were apparently healthy but the same findings were in her aunt. Although her sight was normal until 10 years of age, it began to deteriorate thereafter. Epilepsy was diagnosed at age 12. At presentation, there was a loss of vision and nystagmus with learning disabilities. Her medications included antiepileptic, antidiabetic, and renal drugs.

Extraoral examination revealed hypotony of the upper lip, ptosis, mouth breathing, a long philtrum, and operated right hand and left foot [Figure 2].
Figure 2: Frontal view of patient

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Crowding, missing lower incisor tooth, brown spot lesion on the right incisal ridge of maxillary canine, and high-arched palate (V-shaped of the palate) were noted in intraorally with a displaced tooth in the palate. The maxillary central and lateral incisors were with deep lingual fossa and prominent cingulum [Figure 3]a, [Figure 3]b, [Figure 3]c. However, the oral mucosa was normal.
Figure 3: (a) Dental crowding in maxilla and mandible, (b) missing teeth in the lower anterior tooth, and (c) high-arched palate

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The panoramic image showed short roots of the anterior incisor teeth and partially impacted bilateral wisdom teeth in the mandible with elongation and prominent mandibular condyles bilaterally [Figure 4]. The patient was managed for periodontal care. Moreover, oral hygiene motivation and diet including reduced sugar and enhanced fiber content were advised.
Figure 4: Panoramic image shows missing mandibular lateral incisor and short roots of mandibular anterior teeth, impacted wisdom teeth in the mandible

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   Discussion Top


Bardet–Biedl syndrome is an uncommon autosomal recessive genetic abnormality with severe multiorgan involvement.[2] Many associated minor features can be of aid in the diagnosis and are important in the clinical management of BBS.[1] Oral and dental abnormalities have been observed in about 50% of patients with BBS.[1],[6] In our case, the patient displayed the minor diagnostic features of developmental delays, anosmia, and oral and dental abnormalities as evidenced by missing tooth, short roots of mandibular incisor teeth, crowding, and V-shaped palate. These findings were consistent with the other report regarding oral and dental anomalies.[2] Andersson et al. reported the rate of 82.9% to have taurodontism, proposing that taurodontism abnormality must be included in the diagnostic features of BBS.[5] However, there was no taurodontism in any of the teeth of our case.

In addition, the panoramic view of this patient is similar to the reported case of Hassona et al.,[7] which was observed with a long condylar neck. Gingival hyperplasia was not observed in our patient despite being on antiepileptic drugs. However, there was leukoedema of both buccal mucosae in case of Hassona et al.[7] but there was no oral soft tissue lesion in our case. Determination of oral and dental anomalies may aid the clinician to differentiate this syndrome from similar abnormalities such Cohen, McKusick–Kaufman, Laurence–Moon and Alstrom syndrome; therefore, dentists might have a significant role in the diagnosis of these syndromes.[5] It is reported that patients with BBS have often poor social communication, fixed routine life, speech delay, and labile behaviors such as autistic; thus, compliance with dental treatment may be compromised.[8] This patient exhibited attention and behavioral problems; however, the cooperation for the dental treatment was enough; furthermore, the whole dental procedures were carried out under local anesthesia. The cases with more serious behavioral and cognitive deficiency may need some sedation methods during dental treatment.[7] Visual problems by virtue of red cone dystrophy are a main property of BBS; for this reason, affected patients may have difficulties in carrying out adequate oral and dental hygiene.[1]

Beales et al. stated that 7–50% of individuals with BBS may represent cardiovascular anomalies such as containing valvular stenosis, cardiac myopathies, and patent ductus arteriosus.[2] Hence, such patients usually require a physician's consultation before the commencement of dental treatment to prevent bacterial endocarditis.


   Conclusion Top


BBS is an infrequent autosomal recessive genetic anomaly with severe multiorgan impairment whose identification is based first on clinical diagnostic features. There are a limited number of publications about oral and dental findings of this syndrome. Defining the oral and dental features may help for the diagnosis of BBS but evaluation of patients with BBS might be complex for dentists. Multidisciplinary modalities should be performed about the oral complaints and related treatments of patients with BBS. In addition, a holistic approach toward the individuals and their treatment will help in improving the quality of life for such patients.

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

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Forsythe E, Beales PL. Bardet–Biedl syndrome. Eur J Hum Genet 2013;21:8-13.  Back to cited text no. 1
    
2.
Beales P, Elcioglu N, Woolf A, Parker D, Flinter F. New criteria for improved diagnosis of Bardet–Biedl syndrome: Results of a population survey. J Med Genet 1999;36:437-46.  Back to cited text no. 2
    
3.
Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, et al. Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet 2011;129:79-90.  Back to cited text no. 3
    
4.
O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J. The importance of renal impairment in the natural history of Bardet–Biedl syndrome. Am J Kidney Dis 1996;27:776-83.  Back to cited text no. 4
    
5.
Andersson EM, Axelsson S, Gjølstad LF, Storhaug K. Taurodontism: A minor diagnostic criterion in Laurence–Moon/Bardet–Biedl syndromes. Acta Odontol Scand 2013;71:1671-4.  Back to cited text no. 5
    
6.
Majumdar U, Arya G, Singh S, Pillai A, Nair PP. Oro-dental findings in Bardet–Biedl syndrome. BMJ Case Reports 2012. Doi:10.1136/bcr.12.2011.5320.  Back to cited text no. 6
    
7.
Hassona Y, Kasabreh N, Hammoudeh H, Scully C. Oral healthcare management in Bardet–Biedl syndrome. Spec Care Dentist 2017;37:47-50.  Back to cited text no. 7
    
8.
Brinckman DD, Keppler-Noreuil KM, Blumhorst C, Biesecker LG, Sapp JC, Johnston JJ, et al. Cognitive, sensory, ana psychosocial characteristics in patients with Bardet–Biedl syndrome. Am J Med Genet A 2013;161:2964-71.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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