Zobrazeno 1 - 10
of 136
pro vyhledávání: '"Chondroectodermal dysplasia"'
Publikováno v:
Clinical Case Reports, Vol 9, Iss 4, Pp 1973-1976 (2021)
Abstract Ellis‐van Creveld syndrome 10‐year‐old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the EVC2 gene in patient. She had no peg‐shaped teeth, multiple frenula, an
Externí odkaz:
https://doaj.org/article/6afd816257614977ad2fcb66ab344d28
Autor:
K Ravi, Suraj S Hegde
Publikováno v:
APIK Journal of Internal Medicine, Vol 9, Iss 3, Pp 180-182 (2021)
Ellis–van Creveld syndrome is a rare genetic disorder with autosomal recessive inheritance, mainly affecting the Amish population living in Pennsylvania, USA, with an incidence of 1:244,000 for the general population. This syndrome consists of char
Externí odkaz:
https://doaj.org/article/2c28daa80e894f609f0d62f5a9854602
Publikováno v:
The Indian Anaesthetists' Forum, Vol 19, Iss 2, Pp 85-88 (2018)
Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal or mesoectodermal dysplasia, is an autosomal recessive disorder found in the Amish population of Pennsylvania in the USA, with the incidence of 1:244,000 for the general populat
Externí odkaz:
https://doaj.org/article/01b5ac42679d4c6a8febd4de8a4bd801
Publikováno v:
Journal of Oral Biology and Craniofacial Research, Vol 5, Iss 2, Pp 98-101 (2015)
Ellis Van Creveld syndrome (EVC) is a rare genetic disorder having autosomal recessive inheritance affecting the Amish population of Pennsylvania in USA with incidence of 1:244,000 for the general population. This syndrome consists of characteristic
Externí odkaz:
https://doaj.org/article/b68cc12292cf41ddbe65fac8b90b803c
Autor:
Sabitha Gokulraj, N Mohan, J Babususai Raj, S Yasmeen Ahamed, C J Stephen Arokiaraj, A Cicilia Subbulakshmi
Publikováno v:
Journal of Pharmacy and Bioallied Sciences, Vol 8, Iss 5, Pp 179-181 (2016)
Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifesta
Externí odkaz:
https://doaj.org/article/060a317ca12141da91d023346e065ba8
Akademický článek
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Publikováno v:
Indian Journal of Dental Research, Vol 18, Iss 1, Pp 31-34 (2007)
Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia. Majority of cases were
Externí odkaz:
https://doaj.org/article/d3f406b940f94a8c819ef5ab1228ff03
Publikováno v:
Frontiers in Dentistry, Vol 11, Iss 3 (2014)
Chondroectodermal dysplasia (Ellis-Van Creveld syndrome) is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and con
Externí odkaz:
https://doaj.org/article/136b722b5b3a4779b144eccef307d326
Publikováno v:
Journal of Indian Academy of Oral Medicine and Radiology, Vol 22, Iss 1, Pp 70-72 (2010)
Ellis-van Creveld syndrome also known as chondroectodermal dysplasia is a rare genetic disorder of the skeletal dysplasia type, first described by Richard WS Ellis and Simon van Creveld in 1940. The syndrome manifests with several skeletal anomalies,
Externí odkaz:
https://doaj.org/article/15a1e693aaf84b74b68740b9788f75fc
Autor:
Afshar H, Payghambari SMM
Publikováno v:
Journal of Dental Medicine, Vol 11, Iss 4, Pp 52-55 (1999)
One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ectodermal dysplasia, polyductyly, an abnormally wide labial frenum and maxillary"nmolars with single root.
Externí odkaz:
https://doaj.org/article/656a665c9904424cabe2ab96882eb581