A perfect diagnosis of Ellis-van Creveld syndrome by oral manifestations: a case report
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چکیده
منابع مشابه
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.
متن کاملEllis-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...
متن کاملChondroectodermal 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...
متن کاملEllis Van Creveld Syndrome - A perinatal autopsy case report
Ellis Van Creveld syndrome is a disease complex where all the three embryonic layers appear to be involved. This disorder is also called chondro ectodermal dysplasia or meso ectodermal dysplasia. It is a part of an emerging class of diseases called ciliopathies due to primary dysfunction of cilia. It is very rare; only about 150 cases have been described in the world literature and rarely been ...
متن کاملELLIS-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
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ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2017
ISSN: 2349-3283
DOI: 10.18203/2349-3291.ijcp20164430