Ellis-van Creveld syndrome: report of two cases

Abstract

The diagnosis of this syndrome is based on clinical grounds supported by radiological evaluation. Prenatal diagnosis is possible by ultrasonography and genetic testing. Genetic counseling is required to make the parents aware of the risk of recurrences.

A perfect diagnosis of Ellis-van Creveld syndrome by oral manifestations: a case report

“…1 Mutations of the EVC1 and EVC2 genes are in a head to head configuration on chromosome 4p16, which is the causative factor. 2 This report demonstrates a typical Ellis vancreveld syndrome in a 14-year-old Indian girl with the classical oral manifestations, which will aid the dental surgeons in diagnosing the syndrome and refer to other A 14 year old female patient reported to our dental outpatient department with the chief complaint of missing teeth in relation to upper and lower anterior region ( Figure 1). Medical history revealed that the patient had a congenital heart defect and bilateral genu valgum, corrected before 3 years.…”

Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome

“…EvC is a rare syndrome that was first described by Richard Ellis and Simon van Creveld in 1940. In most parts of the world, EVC syndrome occurs in 1 out of 60 000 to 200 000 live births [1]. This disease is characterized by skeletal disorders, including shortening of the limbs, short ribs, postaxial polydactyly and dysplastic nails.…”

“…Patients also present a range of dental anomalies, including natal teeth, oligodontia, peg-shaped teeth and abnormalities of the enamel [2]. It is also associated with a high frequency of congenital cardiac defects [1]. However, most patients have intelligence in the normal range [1].…”

“…Ellis–van Creveld syndrome (EvC syndrome, MIM 225500), or chondroectodermal dysplasia, is a rare autosomal recessive inherited disease that is characterized by a tetrad of cardinal features including disproportionate dwarfism, bilateral postaxial polydactyl of hands, ectodermal dysplasia, and congenital cardiac malformations [1]. Approximately two-thirds of affected individuals have a congenital heart disease, usually an atrial septal or atrioventricular septal defect [2].…”

Defecto del canal auriculoventricular, aurícula única y atresia tricuspídea como parte de un caso de síndrome de Ellis-Van Creveld

“…Sus características clínicas se describieron en numerosos informes [3][4][5][6] y series de casos. [7][8][9][10][11][12] Después del nacimiento, el cuadro clínico suele ser la tétrada conformada por: 1) estatura pequeña con acortamiento de la parte distal de los miembros y acortamiento de las falanges media y distal; 2) polidactilia en las manos (casi siempre bilateral), que ocasionalmente afecta los pies; 3) displasia condroectodérmica que afecta principalmente las uñas, el cabello y los dientes, y 4) malformaciones cardíacas congénitas (50% a 60% de los casos); las más frecuentes son defectos septales y aurícula única; también se han informado defectos de las válvulas mitral y tricúspide, persistencia del conducto arterioso y síndrome del corazón izquierdo hipoplásico. 1,2,7 La presencia de malformaciones cardíacas apoya el diagnóstico de SEVC y parece ser el principal determinante de la longevidad de los pacientes afectados; se las asocia con una altísima mortalidad.…”