A perfect diagnosis of Ellis-van Creveld syndrome by oral manifestations: a case report

Khaja Khalid Nawaz; . Selvabalaji; Santham Krishnamurthy; . Sivaraman

doi:10.18203/2349-3291.ijcp20164430

Authors

Khaja Khalid Nawaz Department of Oral and Maxillofacial Surgery, Dr. H. Gordon Roberts Hospital shillong, Meghalaya, India
. Selvabalaji Department of Pedodontics, Indira Gandhi institute of dental sciences, Pondicherry, India
Santham Krishnamurthy Department of Pedodontics, Satyabhama Dental College, Chennai, India
. Sivaraman Department of Oral Medicine, Vivekananda Dental College for Women, Namakkal Dt, Tamil Nadu, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20164430

Keywords:

Chondroectodermal dysplasia, Ellis vancreveld syndrome, Oral manifestations

Abstract

Ellis-van Creveld syndrome is an extremely rare congenital genetic disorder having autosomal recessive inheritance. The characteristic features of this syndrome are bilateral postaxial polydactyly, acromesomelic dwarfism, ectodermal dysplasia affecting nails, congenital cardiac malformation, edentulous maxillary and mandibular incisors, non-appearance of mucobuccal fold, congenitally missing teeth, slight serrations of the alveolar ridge and multiple small alveolar notches. The present case describes the oral manifestations of the patient which leads to a perfect diagnosis of this syndrome. Ellis-van Creveld syndrome requires a multidisciplinary management and, hence the dental surgeons play an important role in these cases.

Metrics

Metrics Loading ...

References

Shawky RM, Sadik DI, Seifeldin NS. Ellis-van Creveld syndrome with facial dysmorphic features in an Egyptian child. Egypt J Med Human Genet. 2010;11(2):181-5.

Mehndiratta S, Tyagi A, Devgan V. Ellis-van Creveld syndrome: report of two cases - case Report. World J Pediatr. 2011;7(4):368-70.

Ellis-van Creveld syndrome, genetics home referrence; reviewed, 2012. Available at https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome.

Veena KM, Jagadishchandra H, Rao PK, Chatra L. Ellis-van Creveld syndrome in an Indian child: a case report. Imaging Sci Dent. 2011;41(4):167-70.

Phatak SV, Kolwadkar PK, Phatak MS. Ellis van creveld syndrome: report of two cases. Indian J Radiol Imaging. 2003;13:393-4.

Kalaskar R, Kalaskar AR. Oral manifestations of Ellis-van Creveld syndrome. Contemp Clin Dent. 2012;3:S55-9.

Rober JG, Cohen MM, Raoul CM. Syndromes of the head and neck (4th ed.) Oxford University Press; 2001:239-242.

Mostafa MI, Temtamy SA, el-Gammal MA, Mazen IM. Unusual pattern of inheritance and orodental changes in the Ellis van Creveld syndrome. Genet Couns. 2005;16(1):75-83.

Alves-Pereira D, Berini-Aytés L, Gay-Escoda C. Ellis-Van Creveld syndrome. Case report and literature review. Med Oral Patol Oral Cir Bucal. 2009;14(7):E340-3.

Alves-Pereira D, Berini-Aytés L, Gay-Escoda C. Ellis-van Creveld syndrome. Case report and literature review. Med Oral Patol Oral Cir Bucal. 2009;14:E340-3.