نتایج جستجو برای: van creveld syndrome

تعداد نتایج: 686722  

Journal: :JPMA. The Journal of the Pakistan Medical Association 2008
Faisal Shamim Fauzia Nasim Minai

A known case of Ellis-Van Creveld Syndrome was scheduled for emergency repair of obstructed paraumblical hernia. We describe the anaesthetic management of the case with special reference to the classic physical and physiological manifestations of this syndrome present in our patient.

Journal: :genetics in the 3rd millennium 0
hilda yazdan navid almadani ariana kaiminejad

ellis-van creveld syndrome is a very rare autosomal recessive skeletal dysplasia characterized by a short stature, short limbs, short ribs, postaxial polydactyly, dysplastic nails, multiple frenula, and congenital heart defects.  we describe a 22-year-old boy with a short stature, short limbs, short distal extremities, small teeth, short upper lip bound by frenula to the alveolar ridge, multipl...

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...

Journal: :Acta orthopaedica Belgica 2008
Emilie Desbonnez Antoine de Gheldere Olivier Barbier Pierre-Louis Docquier

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.

Journal: :Physical review letters 2008
Giorgio Levy de Castro Christophe Berthod Alexandre Piriou Enrico Giannini Øystein Fischer

In two dimensions the noninteracting density of states displays a van Hove singularity (VHS) which introduces an intrinsic electron-hole asymmetry, absent in three dimensions. We show that due to this VHS the strong-coupling analysis of tunneling spectra in high-Tc superconductors must be reconsidered. Based on a microscopic model which reproduces the experimental data with excellent accuracy, ...

Journal: :Lancet 2018
Philip J Landrigan Richard Fuller Nereus J R Acosta Olusoji Adeyi Robert Arnold Niladri Nil Basu Abdoulaye Bibi Baldé Roberto Bertollini Stephan Bose-O'Reilly Jo Ivey Boufford Patrick N Breysse Thomas Chiles Chulabhorn Mahidol Awa M Coll-Seck Maureen L Cropper Julius Fobil Valentin Fuster Michael Greenstone Andy Haines David Hanrahan David Hunter Mukesh Khare Alan Krupnick Bruce Lanphear Bindu Lohani Keith Martin Karen V Mathiasen Maureen A McTeer Christopher J L Murray Johanita D Ndahimananjara Frederica Perera Janez Potočnik Alexander S Preker Jairam Ramesh Johan Rockström Carlos Salinas Leona D Samson Karti Sandilya Peter D Sly Kirk R Smith Achim Steiner Richard B Stewart William A Suk Onno C P van Schayck Gautam N Yadama Kandeh Yumkella Ma Zhong

Philip J Landrigan, Richard Fuller, Nereus J R Acosta, Olusoji Adeyi, Robert Arnold, Niladri (Nil) Basu, Abdoulaye Bibi Baldé, Roberto Bertollini, Stephan Bose-O’Reilly, Jo Ivey Boufford, Patrick N Breysse, Thomas Chiles, Chulabhorn Mahidol, Awa M Coll-Seck, Maureen L Cropper, Julius Fobil, Valentin Fuster, Michael Greenstone, Andy Haines, David Hanrahan, David Hunter, Mukesh Khare, Alan Krupni...

Journal: :Craniomaxillofacial Trauma & Reconstruction 2015

Journal: :Contemporary Clinical Dentistry 2012

Journal: :Journal of Indian Society of Pedodontics and Preventive Dentistry 2009

Journal: :Archives of pathology & laboratory medicine 2005
Deven Scurlock Daniel Ostler Andy Nguyen Amer Wahed

Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hemat...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید