ellis-van creveld syndrome: report of a case in an adult patient
نویسندگان
چکیده
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
منابع مشابه
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
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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 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.
متن کاملEllis-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...
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عنوان ژورنال:
medical journal of islamic republic of iranجلد ۷، شماره ۱، صفحات ۵۹-۶۰
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