Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.
نویسندگان
چکیده
We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q21.1----qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported. His features are strikingly suggestive of Ellis-van Creveld syndrome.
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.
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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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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.
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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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 25 4 شماره
صفحات -
تاریخ انتشار 1988