نتایج جستجو برای: congenital disorder
تعداد نتایج: 698577 فیلتر نتایج به سال:
Background: Congenital factor XIII (FXIII) deficiency is one of the rarest bleeding disorders with a prevalence of one per 2 million in the general population. The disorder is accompanied by a high rate of life-threatening bleeding. Due to normal results of routine coagulation tests, diagnosis of the disorder is challenging, but molecular methods can be used for precise diagnosis. Direct mutati...
Cardiofaciocutaneous syndrome (CFC) type 4 is a rare, phenotypically diverse, autosomal dominant, multiple congenital anomaly disorder, that characterized by distinctive set of dysmorphic craniofacial features, heart disease, and cutaneous abnormalities.
BACKGROUND Adversities operating over intrauterine life have been associated with risk of schizophrenia, but the biology of resultant developmental perturbation is poorly understood. AIMS To examine the relationship of congenital anomalies and related functional impairments in infancy to risk of schizophrenia. METHOD Using the Congenital Anomalies data-set from the Prenatal Determinants of ...
Sir, Angiodermatitis is a common disorder with a clinical and morphological resemblance to Kaposi's sarcoma. In 1965, Mali et al. described the condition ``acro-angidermatitis'' in 18 patients with chronic venous insu¤ciency (1). Other names for this disorder are Stewart-Bluefard syndrome, angiodermatitis, congenital dysplastic angiography, Kaposi-like arteriovenous malformation (AVM) and pseud...
Cutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous vascular disorder that was first described in 1922 by Van Lohuizen (1). The clinical presentation is one of persistent cutis marmorata, phlebectasia, telangiectasia, and areas of ulcerations. The disorder shows slow clinical improvement over time. Previously, CMTC has also been described as congenital generalized phlebectasia ...
هدف: این مطالعه به منظور بررسی میزان فراوانی بیماری lebers congenital amaurosis در تست های الکتروفیزیولوژیک در کودکان در پلی کلینیک قدس سال 90-89 انجام شده است. روش مطالعه: در این مطالعه مقطعی، 50 فرد بدون وجود سابقه اختلال بینایی و تشنج وارد مطالعه شدند شامل 25 نفر مبتلا به lebers congenital amaurosis و 25 نفر که سالم و بعنوان گروه شاهد بودند. دو گروه تحت erg و vep و eog قرار گرفتند و نتایج ب...
Fanconi anemia is the most prevalent form of inherited aplastic anemia which is characterized by progressive bone marrow failure, congenital anomalies and cancer susceptibility. Common anomalies are skeletal abnormalities, skin pigmentation disorder, short stature, head abnormalities, kidney and gonad disorders respectively. Complications of fanconi anemia include: leukemia due to defective DNA...
Accessory scrotum and congenital perineal lipoma are unusual congenital anomalies. Congenital pulmonary airway malformation (CPAM) is a rare congenital disorder of the lung. There are five types of CPAM, each with a different clinical presentation and prognosis. The present report involves a case of type 2 CPAM associated with accessory scrotum and congenital perianal lipoma.
Osteopetrosis is a rare metabolic bone disease characterized by generalized increase in skeletal mass. About 500 cases have been described in the literature. This disorder presents. In one of three forms: Osteopetosis Tarda , Osreopetrosis Congenital and “marble bone” disease. Osteopetrosis congentia results in bone marrow failur and is almost always fatal. Marble bone disease causes short st...
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