نتایج جستجو برای: سندرم ellis van creveld

تعداد نتایج: 79501  

Journal: :Journal of Indian Academy of Oral Medicine and Radiology 2010

Journal: :Medicina oral, patologia oral y cirugia bucal 2009
Daniela Alves-Pereira Leonardo Berini-Aytés Cosme Gay-Escoda

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be dia...

Journal: :Pediatric dentistry 2004
Abel Cahuana Camila Palma Wilber Gonzáles Esther Geán

Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with characteristic clinical manifestations. Its incidence in the general population is low. The oral manifestations of Ellis-van Creveld are found in soft tissues and teeth, but the dental literature on the subject is scarce. In the last 20 years, 5 cases of Ellis-van Creveld syndrome have been follo...

1978
Subash Singh Vandana Arya M Jonathan Daniel Vijeev Vasudevan

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...

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...

N Alizadeh Sh Sadre Ashkevari

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.

Journal: :Journal of the Royal Army Medical Corps 1988
J C Nainby-Luxmoore

The first reported case of Ellis--van Creveld syndrome in a Gurkha child is described, and the implications of the syndrome in this ethnic group are briefly considered.

ALI ANDON PETROSSIANS, MAJID MALEKI,

Ellis-van Creveld syndrome is transmitted as an autosomal recessive trait. This syndrome is accompanied in 60% of cases with congenital heart disease, mostly single atrium or large ASD. Patients are mostly symptomatic, but in this rare case despite 68 years of age, the patient was free of symptoms except for complete heart block for which pacemaker was inserted

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, ...

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