نتایج جستجو برای: golins syndrome

تعداد نتایج: 621911  

Journal: :مجله دیابت و متابولیسم ایران 0
h fakhrzadeh p ebrahim pour m nouri r pourebrahim r heshmat p shoushtarizadeh

introduction: metabolic syndrome includes obesity, hypertriglyceridemia, glucose intolerance, hypertension and lipid profile abnormalities. the risk of cardiovascular diseases with this syndrome is higher than every components alone. in view of its burden and high mortality rate, this syndrome should be noted. methods: the 25-64 aged individuals in 17th zone of tehran were studied. it was desig...

احسانی‌پور, فهیمه,

    Introduction: Cornelia de lange syndrome(CDLS) is a rare syndrome which is characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various ophthalmologic problems. The diagnosis of this syndrome is clinical. Case Report: The patient of the present case report was an infant with cornelia ...

اسلامی, ابوالقاسم, رودپیما, شهلا,

Noonan syndrome is a genetic condition inherited by an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic feature of Turner's syndrome, but a normal karyotype. Noonan syndrome affects approximately 1 in 1500 live births. Congenital heart disease occurs in 35-50% of patients diagnosed with noonan syndrome. The most common cardia...

Journal: :genetics in the 3rd millennium 0
roxana kariminejad mohammad hassan kariminejad

total or partial absence or excess of the sex chromosomes produces different karyotypes and phenotypical abnormalities. upon retrospective analysis of the results of 163444 cytogenetic tests that were performed during 28 years (1987-2015) in this center, different types of sex chromosomal aberrations and the clinical phenotypes are delineated in this article. moreover, the clinical course and t...

Journal: :genetics in the 3rd millennium 0
sorush ghafurian

genetic basis of diffrent arrhythmias has always been an intresting subject of resesrch for scientists. here i will review in brief the most common familia arrhythmias and the new findings regarding their mode of inhetitance. this paper will mainly focus on the genetic basis of the long qt syndromes but we will also have a short review of the genetics of three other familia congenital arrhythmo...

Journal: :acta medica iranica 0
m. ghaffarpour s. s. hejazie m. h. harirchian h. pourmahmoodian

adverse effects of antiepileptic drugs including cutaneous reactions may not only affect the result of treatment and quality of life, but can also be fatal if severe. skin rash is more likely to occur during the first few months of treatment. the objective of this study was description of skin rashes in users of four antiepileptic drugs. we identified skin rashes of phenytoin, carbamazepine, so...

Journal: :dental research journal 0
hitesh vij puneet batra partha sadhu ruchieka vij

binder’s syndrome is an uncommon entity characterized by midfacial hypoplasia along with class iii incisal relationship. the individuals with this syndrome are easily recognizable and the syndrome is mostly associated with other malocclusions. the current article presents two cases of this rare syndrome and describes its general features. key words: binder’s, midfacial hypoplasia, maxillofacial...

Background and purpose: There are controversies on the relationship between metabolic syndrome and chronic obstructive pulmonary disease (COPD). The present study was done to determine the frequency of metabolic syndrome in male patients with COPD as well as the associated illnesses and the symptoms of the disease. Materials and methods: In a cross-sectional survey in Qazvin University of Medi...

Poisoning remains a major cause of hospital admission into the emergency department and intensive care unit. Proper diagnosis is the cornerstone for optimal management of poisoned patients. Since the definitive analytical confirmation of the nature of the toxicant involved in the poisoning cannot be rapidly obtained in the majority of healthcare facilities, diagnosis relies on the medical histo...

Journal: :iranian journal of child neurology 0
javad akhondian professor of child neurology, ghaem medical center, mashhad university of medical sciences, mashhad, iran farah ashrafzadeh professor of child neurology, ghaem medical center, mashhad university of medical sciences, mashhad, iran mehran beiraghi toosi fellow of child neurology, ghaem medical center mashhad university of medical sciences, mashhad, iran nasrin moazen resident of pediatrics, ghaem medical center, mashhad university of medical sciences, mashhad, iran toktam mohammadpoor student of medicine, faculty of medicine, mashhad university of medical sciences, mashhad, iran reza karami student of medicine, faculty of medicine, mashhad university of medical sciences, mashhad, iran

abstract how to cite this article: akhondian j, ashrafzadeh f, beiraghi toosi m, moazen n, mohammadpoor t, karimi r. joubert syndrome in three children in a family: a case series. iran j child neurol. 2013 winter: 7(1); 39-42.   joubert  syndrome  (js)  is  a  rare  autosomal  recessive  central  nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abn...

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