Correction of polydactyly in patients with Ellis-van Creveld syndrome: a report of two cases.
نویسندگان
چکیده
Ellis-van Creveld syndrome (EVC) is a rare chondroectodermal dysplasia presenting several skeletal manifestations and congenital heart malformations. Polydactyly is the most frequent skeletal anomaly. The authors report two cases of EVC syndrome with different manifestations, which underwent surgical treatment for polydactyly.
منابع مشابه
Ellis-van Creveld with an Unusual Dental Anomaly: A Case Report
The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal re...
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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
متن کاملChondroectodermal 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 in a 4-month-old Child: A Case Report
Abstract: Background: Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal dysplasia. EVC presents several skeletal manifestations and congenital heart malformations. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome alteration in the mechanical proper...
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BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a f...
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ورودعنوان ژورنال:
- Acta orthopaedica Belgica
دوره 74 4 شماره
صفحات -
تاریخ انتشار 2008