نتایج جستجو برای: nager syndrome
تعداد نتایج: 621954 فیلتر نتایج به سال:
INTRODUCTION Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, uni...
Background: Food insecurity refers to the inability to afford enough food for an active, healthy life. The metabolic syndrome, otherwise known as syndrome X or the insulin resistance syndrome, is a collection of cardiovascular risk factors including hypertriglyceridemia, lowered HDL-cholesterol, glucose intolerance, abdominal obesity and hypertension. Recent studies indicate widespre...
Introduction: Hamartomatous Polyposis Syndromes (HPS) are a rare group of dominant autosomal inheritance, which is characterized by the development of hamartomatous polyps in the gastrointestinal tract. This syndrome included Juvenile Polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), and PTEN Hamartoma Tumour Syndrome (PHTS). PTEN Hamartoma Tumour Syndrome (PHTS) itself includes Cowden ...
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...
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 ...
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...
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...
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...
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...
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...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید