نتایج جستجو برای: ellis van creveld syndrome

تعداد نتایج: 689663  

2003
Alex van Belkum Henri Verbrugh Nicole Lemmens-den Toom Marga van Santen-Verheuvel Paul Gruteke Wil Goessens Jan van Gils Paul Peerbooms

10.1128/JCM.41.3.1161-1166.2003. 2003, 41(3):1161. DOI: J. Clin. Microbiol. Alex van Belkum and Henri Verbrugh Nicole Lemmens-den Toom, Marga van Santen-Verheuvel, Paul Gruteke, Wil Goessens, Jan van Gils, Paul Peerbooms, Causing a Nosocomial Outbreak Klebsiella pneumoniae Efflux Pump of -Lactamase SHV-5 Gene, and a Multidrug β Integrons, the Extended-Spectrum Patterns of Resistance Associated ...

Journal: :Frontiers in dental medicine 2022

Ellis-van Creveld (EVC) syndrome is an autosomal recessive chondrodysplasia. The affected individuals bear a series of skeleton defects, congenital heart septum anomalies, midfacial and dental defects. Previous studies using Evc or Evc2 mutant mice have characterized the pathological mechanism leading to various types Some patients with EVC supernumerary tooth; however, it not known yet if ther...

2014
Asaranti Kar Dilleswari Pradhan Jagannath Pahi Mrunmayee Patra Pranati Mohanty Gayatri Rath Susmita Behera

Ellis Van Creveld (EVC) syndrome is one of the congenital anomalies not compatible with life. It is also known as chondroectodermal dysplasia. The most common manifestations of this syndrome are short ribs, postaxial polydactyly, growth retardation, and ectodermal and cardiac defects. It has an incidence of one in every 60,000 live births and equal sex predisposition. In our case, perinatal aut...

ژورنال: کومش 2004
باصر, علی, فرانوش, محمد, مهرعلی‌زاده, سمیرا,

Ellis Van Creveld یا دیس‌پلازی کندرواکتودرمال یک بیماری نادر با وراثت اتوزوم مغلوب است که شامل تتراد کندرودیس‌پلازی، دیس‌پلازی اکتودرمال، پلی‌داکتیلی و بیماری مادرزادی قلب است که معمولاً به‌صورت دهلیز منفرد تظاهر می‌کند. کندرودیس‌پلازی در استخوان‌های بلند، شایع‌ترین یافته بالینی است؛ در حالی که آنومالی‌های سیستم عصبی مرکزی و دستگاه ادراری از موارد نادر مرتبط با آن می‌باشد. گزارش مورد یک دختر ب...

2016
Cecile T.L. Kuijpers

Speech development in young children has been studied quite often in a linsi:uistic (mainly phonological) way, with respect to the production and perception ability of infants and young children (Menyuk:,1971;Locke,1983;Ferguson,1986;Jusczyk,1986). Development of children's speech and their acoustic-phonetic correlates, however, are still considered as an area of research in which many aspects ...

2014
Dana Tahririan Alireza Eshghi Pirooz Givehchian Mohammad Ali Tahririan

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 congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during den...

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