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Case Reports
. 2010 Jan;3(1):23-5.
doi: 10.4103/0974-620X.60017.

Ellis van Creveld syndrome with unusual association of essential infantile esotropia

D Das  1 , G Das, T K S Mahapatra, J Biswas
Affiliations
Case Reports

Ellis van Creveld syndrome with unusual association of essential infantile esotropia

D Das et al. Oman J Ophthalmol. 2010 Jan.

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.

Keywords: Postaxial polydactyly; disproportionate dwarfism; essential infantile esotropia; hypoplastic nails.

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Conflict of interest statement

Conflict of Interest: None declared

Figures

Figure 1
Figure 1
Clinical photograph showing essential infantile esotropia (OD)
Figure 2
Figure 2
Clinical photograph showing postaxial polydactyly of both hands
Figure 3
Figure 3
Radiograph showing shortening of distal and middle phalanges as compared to proximal ones
Figure 4
Figure 4
Radiograph showing bilateral short iliac wing and horizontal acetabulum with medial spurs
See this image and copyright information in PMC

References

    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;18:31–4. - PubMed
    1. Lichiardopol C, Militaru C. Ellis-van Creveld syndrome. Rom J Morphol Embryol. 2006;47:363–6. - PubMed
    1. Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet. 2003;72:728–32. - PMC - PubMed
    1. Gorlin RJCM, Jr, Hennekam RCM. Syndromes of the head and neck. 4th ed. Oxford: Oxford University Press; 2001.
    1. Haque F, Ahmad SA. Ellis Van Creveld syndrome. Indian Pediatr. 2004;41:866–8. - PubMed

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