نتایج جستجو برای: van laere syndrome

تعداد نتایج: 686720  

2016
Valerie November Laurence Creton-Cazanave

In recent risk studies, some researchers have raised concerns regarding the focus on extraordinary events-sometimes called " extreme paradigm " (Gaillard, 2007). Simultaneously, we are witnessing a growing interest in the more " ordinary " situations that must be handled on a daily basis in order to avoid crises (Roux-Dufort 2007, Van Laere 2013). In an interdisciplinary perspective of sociolog...

Journal: :Journal of the National Cancer Institute 2013
Mary Beth Terry Parisa Tehranifar

1342 Editorials | JNCI in inflammatory breast cancer (IBC): analysis of 2,014 IBC patient cases from the California Cancer Registry. Breast Cancer Res. 2009; 11(1):R9. 9. Parton M, Dowsett M, Ashley S, et al. High incidence of HER-2 positivity in inflammatory breast cancer. Breast. 2004;13(2):97–103. 10. Bertucci F, Finetti P, Rougemont J, et al. Gene expression profiling identifies molecular s...

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: :مجله دانشکده پزشکی دانشگاه علوم پزشکی تهران 0
تقی بغدادی baghdadi t نادر طوسی toosi n

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.

معموری, غلامعلی, ناصری, فاطمه,

Ellis Van Creveld syndrome or chondroectodermal dysplasia is a rare disease characterized by the triad of postaxial polydactyly, chondrodisplasia of long bones , resulting in acromesomelic dwarfism, and ectodermal dysplasia. In this study , three newborns with this syndrome , consisting of    acromesomelic dwarfism , postaxial bilateral polydactyly , nail hypoplasia...

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: :Indian pediatrics 2004
Faisal Haque S Ameer Ahmad

A six year old child with symmetric polydactyly of both hands and genu valgum deformity was referred for radiographic assessment. On physical examination, there were six digits in both hands with dysplastic finger nails. The upper and lower extremies were shortened out of proportions to the trunk with genu valgum deformity. Radiograph of hands revealed bifid 5th metacarpals and complete duplica...

Journal: :dental research journal 0
shaik sameeulla jayam raviraj suresh dirasantchu suman s. venkata

ellis–van creveld (evc) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. in the present article, we hereby present a case of a 13‑year‑old girl of indian ethnicity with evc syndrome with a remarkable number of classical oral and ...

2017

Submit Manuscript | http://medcraveonline.com by a mutation to interferon regulatory factor 6 on chromosome I [2]. They describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome [2]. Typical blind fistulas of the lower lip,...

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