Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2011 Oct 11:2011:bcr0920114774.
doi: 10.1136/bcr.09.2011.4774.

Ellis van Creveld syndrome--a report of two siblings

Karthik Hegde  1 , Reema Manoj Puthran, Gopakumar Nair, Preeti P Nair
Affiliations
Case Reports

Ellis van Creveld syndrome--a report of two siblings

Karthik Hegde et al. BMJ Case Rep. .

Abstract

Chondro-ectodermal dysplasia is a rare autosomal recessive disorder which affects the ectodermal, mesodermal and endodermal derivatives. There are numerous conditions reported under this title which include Ellis van Creveld syndrome. The oral findings include multiple gingivolabial frena, dental abnormality, malocclusion and hypodontia. The diagnosis of Ellis van Creveld syndrome is based on the presence of oral mucosal changes like notching of the lower alveolus, fusion of the upper lip and gingival mucosa; dental changes like oligodontia, conical shape of anterior teeth and occasional presence of neonatal teeth. The authors report a rare case of Ellis van Creveld syndrome occurring among two siblings with oral mucosal, dental and skeletal abnormalities.

PubMed Disclaimer

Conflict of interest statement

Competing interests None.

Figures

Figure 1
Figure 1
Elder and younger siblings.
Figure 2
Figure 2
(a) Bilateral hexadactyly on both hands and left foot with fusion of the 4th and 5th digits. (b) Bilateral hexadactyly on both hands and left foot.
Figure 3
Figure 3
(a) Anterior mandibular labial frenum attached to the redundant alveolar ridge, missing and malformed 32. (b) Attachment of labial frenum in the maxillary anterior region to the attached gingiva between the central incisors and mandibular labial frenum to the alveolar mucosa with missing and malformed teeth.
Figure 4
Figure 4
Orthopantomogram radiograph showing missing teeth and microdont 32 with short roots.
Figure 5
Figure 5
(a) lntraoral periapical radiograph showing short roots and reduced mesiodistal width with relation to11 and 21 with a radiolucent line extending from the incisal edge. (b) OPG radiograph showing missing teeth and microdont 11 and 21 with short roots.
Figure 6
Figure 6
(a) Anteroposterior (AP) view showing shortening of fibula, genua valga and widening of the tibial shaft. (b) AP view showing shorting of fibula, genua valga and widening of the tibial shaft, exophytic growth on the right tibia and bilateral subluxation of patella.
Figure 7
Figure 7
(a) Anteroposterior (AP) view showing short and thickened tubular bones and broad diaphyseal ends of the humerus. (b) AP view showing short and thickened tubular bones and broad diaphyseal ends of the humerus.
Figure 8
Figure 8
(a) Hand wrist radiograph showing syncarpalism, synmetacarpalism and right hand showing six metacarpals. (b) Hand wrist radiograph syncarpalism, synmetacarpalism and accessory carpal bones near ulnar side on the right and left hand.
See this image and copyright information in PMC

References

    1. Kurian K, Shanmugam S, Harsh Vardah T, et al. Chondroectodermal dysplasia (Ellis van Creveld syndrome): a report of three cases with review of literature. Indian J Dent Res 2007;18:31–4 - PubMed
    1. Shah B, Ashok L, Sujatha GP. Ellis-van Creveld syndrome: a case report. J Indian Soc Pedod Prev Dent 2008;26 Suppl 1:S19–22 - PubMed
    1. 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 - PubMed
    1. Sund KL, Roelker S, Ramachandran V, et al. Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease. Hum Mol Genet 2009;18:1813–24 - PMC - PubMed
    1. Das D, Das G, Mahapatra TK, et al. Ellis van Creveld syndrome with unusual association of essential infantile esotropia. Oman J Ophthalmol 2010;3:23–5 - PMC - PubMed

Publication types