case report of ellis-van creveld syndrome
نویسندگان
چکیده
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.
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 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...
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
1K Rajendra, 2TK Ramamurthy, 3K Gopikrishna, 4GV Ramachandra Reddy, 5K Srinivas, 6S Patil 1Postgraduate Student, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Karnataka, India 2,4Professor, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Karnataka, India 3Senior Lecturer, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Ka...
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 ...
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عنوان ژورنال:
مجله دانشکده پزشکی دانشگاه علوم پزشکی تهرانجلد ۵۹، شماره ۴، صفحات ۷۲-۷۴
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