Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report.

@article{Aminabadi2010ChondroectodermalD,
  title={Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report.},
  author={Naser Asl Aminabadi and Akram Ebrahimi and Sina Ghertasi Oskouei},
  journal={Journal of oral science},
  year={2010},
  volume={52 2},
  pages={
          333-6
        }
}
Ellis-van Creveld (EVC) syndrome is a form of skeletal and chondroectodermal dysplasia, occurring with and without systemic involvement. Taurodontism of permanent and primary molars and upper posterior supernumerary teeth are rarely associated with this syndrome. A 5-year-old girl presented with early childhood caries and hypodontia. She had labiogingival adhesion, labiogingival frenulum hypertrophy, accessory labiogingival frenula, and a serrated appearance of the gingiva. She was also short… 
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Ellis-van Creveld syndrome
TLDR
The presence of a variety of oral manifestations, such as fusion of upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth and congenitally missing teeth requires multidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients.
Ellis–van Creveld syndrome with unusual oral and dental findings: A rare clinical entity
TLDR
A case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp is presented.
Ellis van Creveld syndrome–a report of two siblings
TLDR
A rare case of Ellis van Creveld syndrome occurring among two siblings with oral mucosal, dental and skeletal abnormalities is reported.
Oral manifestations of ellis-van creveld syndrome. A rare case report
TLDR
A clinical case of a 9 year old male patient diagnosed with EVC who visited the authors' Maxillofacial private consultation at Alcorcon Southern Hospital, presenting typical oral manifestations such as dental agenesis, delayed eruption, hypoplasia of the enamel, dental dysmorphism, taurodontism and supernumerary teeth is described.
Chondroectodermal dysplasia (Ellis-van Creveld syndrome)
TLDR
Mutations of the EVC1 and EVC2 genes, located in head to head configuration on chromosome 4p16 have been identified as a causative factor in Ellis-van Creveld syndrome.
Chondroectodermal Dysplasia: A Rare Syndrome
TLDR
Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.
Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation
TLDR
A case of the EVC syndrome with postaxial polydactyly with seven fingers on the right side and hexadactYly on the left side and a partial atrioventricular canal defect diagnosed antenatally is reported.
Neonate presenting with Polydactyly - Think of Ellis Van Creveld Syndrome
TLDR
A case of EVCS is described in a newborn male child with the tetrad of cardinal features along with additional systemic features, which is important because it is transmitted by autosomal recessive manner, so genetic counselling has to be offered to make the parents aware of the risk of recurrence.
Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
TLDR
Pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts was reported for first time in this case of EVC syndrome.
Ellis–van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East
TLDR
It seems that based on these studies, it is possible to identify some families with this genetic mutation and warn such families of the dangers of consanguineous marriage through genetic counseling before marriage.
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References

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Oral and dental anomalies in Ellis van Creveld syndrome (chondroectodermal dysplasia): report of a case.
A case of Ellis van Creveld syndrome is described in which, in addition to all the major features constituting the tetrad of chondroectodermal dysplasia, there was (unusually) bipedal hexadactyly. As…
Chondroectodermal dysplasia (Ellis van Creveld syndrome): a report of three cases with review of literature.
TLDR
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.
Oral manifestations of Ellis-van Creveld syndrome
TLDR
The clinical report not only describes the classical oral and dental manifestations of Ellis-van Creveld syndrome but also presents unusual findings such as single-rooted and funnel-shaped primary first molars, single conical roots of primary second molars and taurodontisum, which must be considered in the differential diagnostic criteria to avoid misdiagnosis of syndromes.
Anesthetic implications of Ellis-van Creveld syndrome.
Oral manifestations of Ellis-van Creveld syndrome: report of two siblings with unusual dental anomalies.
TLDR
Of the unusual dental findings observed in two siblings with EvC, talon cusp, reduced crown size, supernumerary tooth, and early eruption of teeth are presented.
Report of a new syndrome: focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes.
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene
TLDR
It is concluded that this EVC mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC, and should be considered in patients with heart and limb malformations, even if they do not manifest typical EVC syndrome.
Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.
TLDR
It is speculated that EVC and LBN proteins function coordinately in cardiac development and that loss of this coordinate function results in the characteristics of EvC syndrome.
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TLDR
The new Forfar and Arneil is, like its predecessors, a good book, but the absence of the chapter on ear, nose, and throat disorders must surely be an error and there is clearly a marketing problem for British publishers faced with American competition.
Oral and dental anomalies in Ellis van Creveld syndrome
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