Ellis-van Creveld Syndrome: A Case Report

Abstract

not availableBangladesh J Child Health 2016; VOL 40 (3) :179-182

Ellis-van Creveld Syndrome

“…However, in the case of Weyers disorder, the patient would present with small teeth or a reduced number of front teeth. 1,2 In the patient under analysis, all teeth were developed, and their extraction was due to extensive caries and physiological changes such as natural weakness. Therefore, the final diagnosis, Ellis-van Creveld syndrome, was adequately justified, relying on radiographic results and other diagnostic means.…”

“…In addition to physiological abnormalities in the person's fingers and toes, this syndrome's characteristic features include bilateral ulnar polydactyly and short, usually disproportionate, length of long bones. 2 Ectodermal abnormalities such as the limited growth or absence of hair on some parts of the body (e.g., no eyebrows). 2 Heart defects are explained by the abnormal condition of the upper heart chambers.…”

“…2 Ectodermal abnormalities such as the limited growth or absence of hair on some parts of the body (e.g., no eyebrows). 2 Heart defects are explained by the abnormal condition of the upper heart chambers.…”

“…The first case was reported by Ellis and van Creveld in 1940 and was termed chondroectodermal dysplasia or meso-ectodermal dysplasia. 2 As a genetic disorder, Ellis-van Creveld syndrome was thoroughly studied among siblings and relatives to identify common (partial cleft lip and partial anodontia) and distinctive (extra fingers or toes) features and symptoms. 3 Its prevalence varies from 1 to 7 in one million in the general population, but some communities (Amish) do not always report this disorder officially, and all the cases remain poorly investigated.…”