ellis-van creveld syndrome: report of a case in an adult patient

Authors

ali andon petrossians from the cardiovascular research center, shahid rajaii heart hospital, tehran, islamic republic of iran.

majid maleki

abstract

ellis-van creveld syndrome is transmitted as an autosomal recessive trait. this syndrome is accompanied in 60% of cases with congenital heart disease, mostly single atrium or large asd. patients are mostly symptomatic, but in this rare case despite 68 years of age, the patient was free of symptoms except for complete heart block for which pacemaker was inserted

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

ELLIS-VAN CREVELD SYNDROME: REPORT OF A CASE IN AN ADULT PATIENT

Ellis-van Creveld syndrome is transmitted as an autosomal recessive trait. This syndrome is accompanied in 60% of cases with congenital heart disease, mostly single atrium or large ASD. Patients are mostly symptomatic, but in this rare case despite 68 years of age, the patient was free of symptoms except for complete heart block for which pacemaker was inserted

full text

Chondroectodermal dysplasia (Ellis-Van Creveld syndrome: A case report

Ellis-Van Creveld syndrome is a very rare congenital disorder which its principal features are polysyndactyly, chondrodysplasia, cardiac abnormalities and ectodermal dysplasia. We report a 10-year-old girl with major manifestations of this syndrome who also had multiple brownish macules and patches on trunk and extremities with aortic and pulmonary stenosis in echocardiographic evaluations.

full text

Ellis-van Creveld Syndrome: A Case Report

Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the skeletal dysplasia. 'Six-fingered dwarfism' (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish. It is characterized by short-limb dwarfism, polydactyly, malformation of the bones of the wrist, dys...

full text

Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report.

Ellis-van Creveld (EVC) syndrome is a form of skeletal and chondroectodermal dysplasia, occurring with and without systemic involvement. Taurodontism of permanent and primary molars and upper posterior supernumerary teeth are rarely associated with this syndrome. A 5-year-old girl presented with early childhood caries and hypodontia. She had labiogingival adhesion, labiogingival frenulum hypert...

full text

Ellis-van Creveld Syndrome.

A 21 years old male with typical features of Ellis-Van Creveld Syndrome is presented for its rarity. This is the second living case being reported from India.

full text

Ellis-Van Creveld syndrome

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound exami...

full text

My Resources

Save resource for easier access later


Journal title:
medical journal of islamic republic of iran

جلد ۷، شماره ۱، صفحات ۵۹-۶۰

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023