Ellis-van Creveld syndrome in an Indian child: a case report
- Affiliations
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- 1Department of Oral Medicine and Radiology, Yenepoya Dental College, Yenepoya University, Mangalore, India. veenaomr@rediffmail.com
- 2Department of Oral Surgery, Yenepoya Dental College, Yenepoya University, Mangalore, India.
- KMID: 2167402
- DOI: http://doi.org/10.5624/isd.2011.41.4.167
Abstract
- Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.
MeSH Terms
Figure
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Fig. 1 A. The patient has bilateral post axial polydactyly of both hands. B. The patient cannot make tight fist. C. Hypoplastic toe nails and wide gap between the big toe and other toes.
Fig. 2 A. V-shaped notching of the upper lip at the mid line. B and C. Absence of mucobuccal fold in maxillary and mandibular anterior region.
Fig. 3 A. Panoramic radiograph shows conical shaped teeth, missing mandibular permanent anterior, retained deciduous mandibular canine and right lateral incisor. B. Chest radiograph shows homogenous opacity in the left upper zone. C. Antero-posterior view of legs shows Genu valgum. D. Hand-wrist radiograph shows carpal fusion, postaxial polydactyly, shortening of metacarpal and phalangeal bone with cone shaped epiphysis and fusion of capitate and hamate on right hand and hamate and triquadral on left hand.
Reference
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1. Kurian K, Shanmugam S, Harsh Vardah T, Gupta S. Chondroectodermal dysplasia (Ellis van Creveld syndrome): a report of three cases with review of literature. Indian J Dent Res. 2007. 18:31–34.
Article2. Ghanekar J, Sangrampurkar S, Hulinaykar R, Ahmer T. Ellis van Creveld syndrome. J Assoc Physicians India. 2009. 57:532–534.3. Phatak SV, Kolwadkar PK, Phatak MS. Ellis van creveld syndrome: report of two cases. Indian J Radiol Imaging. 2003. 13:393–394.4. McAlister WH, Herman TE. Resnick D, Kransdorf MJ, editors. Osteochondrodysplasias, dysostoses, chromosomal aberrations, mucopolysaccharidoses, and mucolipidoses. Bone and joint imaging. 2005. 3rd ed. Philadelphia: Elsevier;1303.
Article5. Shilpy S, Nikhil M, Samir D. Ellis Van Creveld syndrome. J Indian Soc Pedod Prev Dent. 2007. 25:Suppl. S5–S7.6. Gorlin RJ, Cohen MM Jr, Hennekam RC. Syndromes of the head and neck. 2001. 4th ed. New York: Oxford University Press;239–242.7. Cahuana A, Palma C, Gonzales W, Gean E. Oral manifestations in Ellis-van Creveld syndrome: report of five cases. Pediatr Dent. 2004. 26:277–282.8. Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, et al. Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum Mutat. 2009. 30:1667–1675.9. Ruiz-Perez VL, Goodship JA. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet C Semin Med Genet. 2009. 151C:341–351.
Article10. Umm-E-Kalsoom , Wasif N, Tariq M, Ahmad W. A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. Pediatr Int. 2010. 52:240–246.11. 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–E343.
