Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.
نویسندگان
چکیده
An inbred kindred with 15 cases of the autosomal recessive Ellis-van Creveld syndrome is reported. The ages of the 12 living affected varied between 3 and 82 years. The main characteristics include polydactyly of the hands and feet and several other skeletal anomalies, oral manifestations, and malformations of the heart in 50% of the living affected.
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
متن کاملEllis-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...
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...
متن کاملمورد سندرم Ellis-Van Creveld از بخش ارتوپدی بیمارستان امام خمینی (ره)
Ellis-van Creveld sydrome (Chondroectodermal dysplasia) is a hereditary form of short limb disproportionate dwarfism characterized by diffuse involvement of skeletal system and visceral organs. Two brothers affected by this syndrome are presented here following a brief account of the disease's manifestations.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 17 5 شماره
صفحات -
تاریخ انتشار 1980