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      Ellis-van Creveld syndrome in an Indian child: a case report

      case-report

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          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.

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          Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

          J Goodship, A. Ruiz (2009)
          Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic dominant disorder comprising polydactyly, nail dysplasia, and orofacial abnormalities. EvC results from loss-of-function mutations in EVC or EVC2, the phenotype associated with the mutations in these two genes being indistinguishable. Three convincing causative mutations have been identified in patients with Weyers acrodental dysostosis, which are clustered in the last coding exon of EVC2 and lead to production of a truncated protein lacking the final 43 amino acids. Localization and function of EVC and EVC2 are inferred from studying the murine orthologs. Both Evc and Evc2 proteins localize to the basal bodies of primary cilia and analysis of an Ellis-van Creveld mouse model, which includes the limb shortening and tooth abnormalities of EvC patients, has demonstrated Hedgehog signaling defects in the absence of Evc. The loss of Evc2 has not been studied directly, but Hedgehog signaling is impaired when a mutant murine Evc2 Weyer variant is expressed in vitro. We conclude that the phenotypic abnormalities in EvC and Weyers syndrome result from tissue specific disruption of the response to Hh ligands. Copyright 2009 Wiley-Liss, Inc.
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            Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

            Othman Al-Sawaf, Raffaella Zannolli, Helen Cox … (2009)
            Autosomal recessive Ellis-van Creveld syndrome and autosomal dominant Weyer acrodental dysostosis are allelic conditions caused by mutations in EVC or EVC2. We performed a mutation screening study in 36 EvC cases and 3 cases of Weyer acrodental dysostosis, and identified pathogenic changes either in EVC or in EVC2 in all cases. We detected 40 independent EVC/EVC2 mutations of which 29 were novel changes in Ellis-van Creveld cases and 2 were novel mutations identified in Weyer pedigrees. Of interest one EvC patient had a T>G nucleotide substitution in intron 7 of EVC (c.940-150T>G), which creates a new donor splice site and results in the inclusion of a new exon. The T>G substitution is at nucleotide +5 of the novel 5' splice site. The three Weyer mutations occurred in the final exon of EVC2 (exon 22), suggesting that specific residues encoded by this exon are a key part of the protein. Using murine versions of EVC2 exon 22 mutations we demonstrate that the expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect.
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              Chondroectodermal dysplasia (Ellis van Creveld syndrome): a report of three cases with review of literature.

              K. M. Kurian, M. Shanmugam, T Harsh Vardah … (2015)
              Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia. Majority of cases were characteristically seen in one particular inbred population from the Amish community of Lancaster County, Pennsylvania, U.S.A. The syndrome manifests with several skeletal anomalies, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. Ellis van Creveld syndrome may be differentiated from other chondrodystrophies like achondroplasia, chondroplasia punctata, asphyxiating thorasic dystrophy and Morquio's syndrome. The presence of oral mucosal and dental alterations like notching of the lower alveolar process, fusion of the upper lip with gingival mucosal margin, occasional presence of neonatal teeth, oligodontia and conical shape of anterior teeth will confirm the diagnosis of Ellis van Creveld syndrome and hence its importance to dentists.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Imaging Sci Dent
                Journal ID (publisher-id): ISD
                Title: Imaging Science in Dentistry
                Publisher: Korean Academy of Oral and Maxillofacial Radiology
                ISSN (Print): 2233-7822
                ISSN (Electronic): 2233-7830
                Publication date (Print): December 2011
                Publication date (Electronic): 19 December 2011
                Volume: 41
                Issue: 4
                Pages: 167-170
                Affiliations
                Department of Oral Medicine and Radiology, Yenepoya Dental College, Yenepoya University, Mangalore, India.
                [* ]Department of Oral Surgery, Yenepoya Dental College, Yenepoya University, Mangalore, India.
                Author notes
                Correspondence to: Prof. K.M. Veena. Department of Oral Medicine and Radiology, Yenepoya Dental College, Yenepoya University, Deralakatte, Mangalore, Karnataka 575018, India. Tel) 91-9845010856, Fax) 91-824-2204663, veenaomr@ 123456rediffmail.com
                Article
                DOI: 10.5624/isd.2011.41.4.167
                PMC ID: 3251790
                PubMed ID: 22232726
                SO-VID: d574f95d-aba6-4c4f-ba00-008b126feb5e
                Copyright © Copyright © 2011 by Korean Academy of Oral and Maxillofacial Radiology
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 29 June 2011
                Date revision received : 20 September 2011
                Date accepted : 25 October 2011
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Dentistry
                Keywords: postaxial polydactyly,genu valgum,ellis-van creveld syndrome
                Data availability:
                ScienceOpen disciplines: Dentistry
                Keywords: postaxial polydactyly, genu valgum, ellis-van creveld syndrome

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