Indian Journal of Dental ResearchIndian Journal of Dental ResearchIndian Journal of Dental Research
HOME | ABOUT US | EDITORIAL BOARD | AHEAD OF PRINT | CURRENT ISSUE | ARCHIVES | INSTRUCTIONS | SUBSCRIBE | ADVERTISE | CONTACT
Indian Journal of Dental Research   Login   |  Users online: 301

Home Bookmark this page Print this page Email this page Small font sizeDefault font size Increase font size         

 


 
SHORT COMMUNICATION Table of Contents   
Year : 2010  |  Volume : 21  |  Issue : 1  |  Page : 143-145
Oral abnormalities in the Ellis-van Creveld syndrome


Department of Pedodontics and Preventive Dentistry, SPPGIDMS, Lucknow, Uttar Pradesh, India

Click here for correspondence address and email

Date of Submission10-Feb-2009
Date of Decision30-Jun-2009
Date of Acceptance11-Nov-2009
Date of Web Publication27-Apr-2010
 

   Abstract 

Ellis-van Creveld (EvC) syndrome is an autosomal recessive disorder, mainly affecting the ectodermal components such as, enamel, nail, and hair. The gene for EvC syndrome is located on chromosome 4p16. Patients with EvC syndrome characteristically presents with congenitally missing teeth, abnormal frenal attachment, microdontia, and hexadactyly.

Keywords: Ellis-van Creveld syndrome, hexadactyly, missing teeth, abnormal frenal attachment

How to cite this article:
Babaji P. Oral abnormalities in the Ellis-van Creveld syndrome. Indian J Dent Res 2010;21:143-5

How to cite this URL:
Babaji P. Oral abnormalities in the Ellis-van Creveld syndrome. Indian J Dent Res [serial online] 2010 [cited 2019 Jun 17];21:143-5. Available from: http://www.ijdr.in/text.asp?2010/21/1/143/62791
In 1940, Richard Ellis and Simon van Creveld described the complete syndrome and named it Chondroectodermal dysplasia. [1] Later it was named as the Ellis-van Creveld (EvC) syndrome. The syndrome is inherited as an autosomal recessive trait with paternal consanguinity in about 30% of the cases. [1],[2],[3] EvC syndrome is one of the rare syndromes with a birth prevalence of 7/10,00,000. [4]

EvC syndrome presents characteristic tetrad features: [4] acromelic dwarfism, narrow thorax, long trunk, and bilateral post axial polydactyly of the hands, ectodermal dysplasia with dystrophic small nails, sparse hairs, hypodontia, and congenital cardiac abnormalities in 50 to 60% of the cases. Usually there is koilonychia and hypoplasia of the finger and toe nails. [1],[2],[3] Often there is hexadactyly [1],[2],[3],[4],[5] or polydactyly of the hands or feet and syndactyly and genu valgum skeletal deformities. [5],[6] Affected males may show cryptorchidism, epispadias or hypospadias. [2] Cardiac and respiratory problems due to thoracic malformations are the major cause of death. [7] Anomalies of the central nervous system and the urogenital tract have been reported in some cases. [2]

Oral manifestations in the EvC syndrome are characteristic and constant. The most constant finding is fusion of the anterior portion of the upper lip to the maxillary gingival margin, as a result of which, no mucobuccal fold exists, causing the upper lip to present a slight V-shaped notch in the middle. [2],[3],[5],[6],[7],[8] Changes in the upper lip are variously called partial hare-lip, lip tie, and so on. [9] The anterior portion of the lower ridge is often serrated and presents with multiple small labial frenula. The maxillary and mandibular alveolar process presents with notching or submucous clefts and continuous or broad labial frenula and dystrophic philtrum. [5] Bilateral incomplete clefts or notchings usually involve the region normally occupied by the lateral incisors, each submucous cleft being marked by a moderately sized fibrous band, whose fibers appear to incise the underlying alveolar process and extend across the mucobuccal fold into the lip. [5] Gorlin et al. believe that this notching is a continuation of the normal serrated condition, which is present from the third to the seventh month in utero. [10]

Hypodontia involving the maxillary and mandibular incisor region is also a consistent finding. Teeth often present with congenital abnormalities in number, shape, and structure. Teeth abnormalities in the EvC syndrome appear to be due to a genetic effect, occurring during the initiation and morphodifferentiation stages of tooth development. [8] The phenotypic expression of this disease is quite different for different teeth, with considerable interfamilial and intrafamilial variations. [2] Teeth tend to be conical in shape [2],[3],[5],[6],[7] and often present with various abnormalities such as mesiodens, [7],[8],[11] enamel invasination, pulp stones, [11] taurodontism, [5],[11] natal and neonatal teeth, [1],[2],[3] microdontia, [6] gemination, [6],[8] supernumerary teeth, and single conical roots in the primary molars. [5],[6],[8] Congenitally missing primary and permanent teeth, malocclusion and delayed eruption of teeth are constant features of the EvC syndrome. [1],[2],[3],[6]


   Case Report Top


A 14-year-old girl reported to the Department of Pedodontics and Preventive dentistry, with a chief complaint of missing upper anterior teeth. Her history revealed that she was the first child of consanguineous parents. Her younger brother and all other family members have developed normally.

On examination, her mental development was well within normal limits. Her height was 110 cm, showing acromelic dwarfism for her age. She had a prominent nose, long trunk, and short limbs, with genu valgum skeletal deformity, but her skin and hair showed no abnormalities [Figure 1]. There was hexadactyly in the upper and lower right limbs and polydactyly in the upper left limb. Nails were dysplastic. Fingers were of varied length and syndactyly was seen in the fifth and sixth fingers of the left hand. There was an increased gap between the first and second toe in the lower right limb [Figure 2] and [Figure 3].

On oral examination, there was a fusion of the anterior portion of the upper lip to the maxillary gingival margin, resulting in a shallow vestibule and absence of the mucobuccal fold. Because of this fusion, the middle portion of the upper lip, presented a slight V-shaped notch and shallow mandibular sulcus with abnormal frenal attachment. Upper and lower incisors are congenitally missing and primary canine is retained in mandibular right side. Teeth were conical in shape [Figure 4] and [Figure 5]. Teeth were hypoplastic and irregularly formed with several grooves, resulting in multiple carious lesions. Panoramic radiographic examination showed congenitally missing anterior teeth, a developing supernumerary tooth in the lower left posterior region, and retained maxillary primary second molars with single conical roots and a mandibular canine. Taurodontism was seen in the lower first molars. Root formations of maxillary and mandibular second molars were incomplete [Figure 6]. Treatment was planned by replacement of missing anterior teeth with removable partial denture and restoration of carious teeth with composite restoration. Preventive measures were planned with professional care and home oral hygiene instruction.


   Discussion Top


The EvC syndrome is an autosomal recessive disorder mainly affecting ectodermal components such as enamel, nails, and hair. [1] The gene for the EvC syndrome is located on chromosome 4p16. [12] Polymeropoulos et al. [12] showed the linkage of the EvC syndrome gene to markers on the distal short arm of human chromosome 4, with Zmax = 6.91 at-q = 0.02 for marker HOX7, in a region proximal to the FGFR3 gene, responsible for the achondroplasia phenotype. Serotkin et al. [13] found features suggesting EvC in an infant who was mosaic for duplication 17q21-1-qter. The EvC syndrome has shown an association with Dandy-Walker syndromes. [14]

There is an increased risk of caries in the EvC syndrome cases because of irregularly arranged hypoplastic teeth and molars having abnormal cusps or accessory grooves with deep pits and fissures. [3],[5],[6],[7],[8],[11] Hence, patients should be made aware of the importance of preventive measures, such as, proper home oral hygiene, diet control, daily fluoride mouth rinses, and professional care. [4],[5],[8] Professional care can be provided with oral prophylaxis, professional topical fluoride application, and occlusal sealant. Instead of amalgam restoration, composite restorations and pit and fissure sealants are preferred, for a better esthetic result and to conserve tooth structure. [4],[5],[7],[8] Fusion of the anterior portion of the upper lip to the maxillary gingival margin and congenitally missing anterior teeth can affect the appearance of the patient and cause speech and psychological problems. Hence, it is advocated to replace the missing teeth with an acrylic partial denture or fixed partial denture to maintain space and to improve mastication, esthetics, and speech. [4],[6],[7] Parental and child counseling may be needed to treat psychological trauma. Cardiac defects present in some EvC patients and require antibiotic coverage for the prevention of infective endocarditis. [4] Surgical correction is advised for soft tissue and skeletal abnormalities. [15]


   Conclusion Top


It is challenging to the dental team to manage patients with EvC syndrome, both in terms of preventing oral disease and providing restorative care, the latter being further complicated by the possibility of congenital cardiac defects. Hence, special emphasis should be placed on preventive measures along with a multidisciplinary approach.

 
   References Top

1.Ellis RW, van Creveld S. A syndrome characterized by ectodermal dysplasia, polydactaly, chondro-dysplasia and congenital marbus cardis. Arch Dis Child 1940;15:65-84.  Back to cited text no. 1      
2.McKusick VA, Egeland JA, Eldridge R, Krusen DE. Dwarfism in the Amish: I. The Ellis-van Creveld syndrome. Bull Hopkins Hosp 1964;115:306-36.  Back to cited text no. 2      
3.Mitchel FN, Waddel WW Jr. Ellis-van Creveld syndrome: Report of two cases in sibling. Acta Pediatr 1958;47:142-51.  Back to cited text no. 3      
4.Hattab FN, Yassin OM, Sasa IS. Oral manifestations of Ellis-van Creveld syndrome: Report of two siblings with unusual dental anomalies. J Clin Pediatr Dent 1998;22:159-65.  Back to cited text no. 4      
5.Hunter ML, Roberts GJ. Oral and dental anomalies in Ellis-van Creveld syndrome (Chondroectodermal dysplasia): report of a case. Int J Paediatr Dent 1998;8:153-7.  Back to cited text no. 5      
6.Cahuana A, Palma C, Gonzαles W, Geαn E. Oral manifestations in Ellis-van Creveld syndrome: Report of five cases. Pediatr Dent 2004;26:3;277-81.  Back to cited text no. 6      
7.Deborah A, Himelhoch DA, Mostofi R. Oral abnormalities in the Ellis-van Creveld syndrome: Case report. Pediatr Dent 1988;10:309-13.  Back to cited text no. 7      
8.Sarnat H, Amir E, Legum CP. Developmental dental anomalies in Chondroectodermal dysplasia (Ellis-van Creveld syndrome). ASDC J Dent Child 1980;28-31.  Back to cited text no. 8      
9.Atasu M, Biren S. Ellis-van Creveld syndrome: Dental, clinical, genetic and dermatoglyphic findings of a case. J Clin Pediatr Dent 2000;24:141-5.  Back to cited text no. 9      
10.Gorlin RJ, Cohen MM Jr, Levin LS. Syndromes of Head and neck, 3 rd edn. New York: Oxford University Press; 1990. p. 201-4.  Back to cited text no. 10      
11.Winter GB, Geddes M. Oral manifestations of Chondroectodermal dysplasia (Ellis-van Creveld syndrome): report of a case. Br Dent J 1967;122:103-7.  Back to cited text no. 11      
12.Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, et al. The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. Genomics 1996:35:1-5  Back to cited text no. 12      
13.Serotkin A, Stamberg J, Waber L. Duplication 17q 21-I-qter mosaicism in an infant with features of Ellis-van Creveld syndrome. J Med Genet 1988;25:258-69.  Back to cited text no. 13      
14.Christian JC, Dexter RN, Palmer CG, Muller J. A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment. Am J Med Genet 1980;6:301-8.  Back to cited text no. 14      
15.Susami T, Kuroda T, Yoshimasu H, Suzuki R. Ellis- van Creveld syndrome: Craniofacial morphology and multidisciplinary treatment. Cleft Palate Craniofac J 1999;36:345-52.  Back to cited text no. 15      

Top
Correspondence Address:
Prashant Babaji
Department of Pedodontics and Preventive Dentistry, SPPGIDMS, Lucknow, Uttar Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-9290.62791

Rights and Permissions


    Figures

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

This article has been cited by
1 Hypoplastic Mandibular Labial Frenulum With Accessory Frenulum in a Healthy Child
Fatih Ceran,Ozgur Pilanci,Mehmet Sagir,Omer Saglam,Samet Vasfi Kuvat
The Journal of Craniofacial Surgery. 2015; 26(1): 325
[Pubmed] | [DOI]
2 An overview of frenal attachments
Priyanka, M. and Sruthi, R. and Ramakrishnan, T. and Emmadi, P. and Ambalavanan, N.
Journal of Indian Society of Periodontology. 2013; 17(1): 12-15
[Pubmed]
3 Ellis-van Creveld
jayaraj, D., Maheswaran, T., Suresh, R., Ganaqpathy, N.
Journal of Pharmacy and Bioallied Sciences. 2012;
[Pubmed]
4 Ellis van Creveld syndrome - A report of two siblings
Hegde, K., Puthran, R.M., Nair, G., Nair, P.P.
BMJ Case Reports. 2011;
[Pubmed]



 

Top
 
 
  Search
 
 
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Email Alert *
    Add to My List *
* Registration required (free)  
 


    Abstract
    Case Report
    Discussion
    Conclusion
    References
    Article Figures

 Article Access Statistics
    Viewed3385    
    Printed112    
    Emailed5    
    PDF Downloaded310    
    Comments [Add]    
    Cited by others 4    

Recommend this journal