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Ellis-van Creveld with an Unusual Dental Anomaly: A Case Report | ||
| Iranian Journal of Medical Sciences | ||
| مقاله 12، دوره 42، شماره 5، آذر 2017، صفحه 501-504 اصل مقاله (633.78 K) | ||
| نوع مقاله: Case Report(s) | ||
| نویسندگان | ||
| Suzanne Tanya Nethan* ؛ Shruti Sinha؛ Sunira Chandra | ||
| Department of Oral Medicine and Radiology, Saraswati Dental College, Lucknow, Uttar Pradesh, India | ||
| چکیده | ||
| The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal recessive disorder with variable expressions, due to the mutation of the EVC syndrome 1 and 2 genes, which are located on chromosome 4p16. The present case report describes the EVC syndrome in a 14-year-old girl, who presented with a tetrad of all the cardinal features and other associated features. Additional unusual dental findings such as single-rooted funnel-shaped molars, reduced crown size, enamel hypoplasia, supernumerary teeth, dental fusion, taurodontism, abnormal occlusal anatomy with wide grooves, and atypical cusps have been reported in most previous cases of this syndrome. However, in our patient, surprisingly, the teeth present were relatively non-anomalous, both clinically and radiographically (i.e., with none of the usually found abnormalities mentioned above). The only abnormal dental findings were those of absent maxillary and mandibular incisors (including impacted permanent incisors) and mild malocclusion, a novel point of this case. | ||
| کلیدواژهها | ||
| Syndrome؛ Dwarfism؛ Polydactyly؛ Ectodermal dysplasia؛ Cardiac defect | ||
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