Ellis van Creveld syndrome with unusual association of essential infantile esotropia

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Abstract

Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autosomal recessive disorder with mutations of the EVC1 and EVC2 genes located on chromosome 4p16. Patients with this syndrome usually have a high mortality in early life due to cardiorespiratory problems. We present the case of a six- month-old female infant with Ellis-van Creveld syndrome - essential infantile esotropia, which has been infrequently documented in the literature.

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Most cited references 14

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The ciliopathies: an emerging class of human genetic disorders.

Jose L Badano, Norimasa Mitsuma, Phil Beales … (2006)

Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological roles, including whole-cell locomotion; movement of fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Consistent with their stringent evolutionary conservation, defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration. Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations in ciliary proteins now associated with nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. The molecular data linking seemingly unrelated clinical entities are beginning to highlight a common theme, where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive and therapeutic value.

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Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Cecilia Espinoza, H Blair, A. Ruiz … (2003)

Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also cause EvC. These two genes lie in a head-to-head configuration that is conserved from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable.

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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): Oman J Ophthalmol

Journal ID (publisher-id): OJO

Title: Oman Journal of Ophthalmology

Publisher: Medknow Publications (India )

ISSN (Print): 0974-620X

ISSN (Electronic): 0974-7842

Publication date (Print): Jan-Apr 2010

Volume: 3

Issue: 1

Pages: 23-25

Affiliations

Departments of Ophthalmology and Pediatrics, R. G. Kar Medical College, Kolkata, India

Author notes

Correspondence: Dr. Debabrata Das, E-8 Shyamali Estate, Ea Block, Sector-I, Saltlake City, Kolkata - 64, India. E-mail: debabrata_dr@ 123456yahoo.com

Article

Publisher ID: OJO-3-23

DOI: 10.4103/0974-620X.60017

PMC ID: 2886224

PubMed ID: 20606869

SO-VID: ca77c7ea-dca9-4872-917c-4105efa75a28

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Ellis van Creveld syndrome with unusual association of essential infantile esotropia

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Abstract

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Karger: Ophthalmology

Most cited references 14

The ciliopathies: an emerging class of human genetic disorders.

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Chondroectodermal dysplasia (Ellis van Creveld syndrome): a report of three cases with review of literature.

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