نتایج جستجو برای: congenital disorder
تعداد نتایج: 698577 فیلتر نتایج به سال:
congenital hepatic fibrosis (chf) is a rare disease that affects both the liver and kidneys. congenital hepatic fibrosis (chf) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. affected individuals also have impaired renal function, usually caused, in children and teenagers, by an...
Noonan Syndrome (NS) is an autosomal dominant disorder in which parents with syndrome have a 50percent chance of passing the mutation to their children, most commonly due PTPN11 gene. In clinical case, we identified male child who showed features such as short stature, congenital heart disease and peculiar facial appearance, strongly suspecting syndrome. The purpose this article report presenta...
INTRODUCTION The congenital constriction ring of lower extremity is very uncommon and rare condition. The actual incidence in general population is not known. In English literature, very few cases are reported time to time as congenital constriction band syndrome associated with musculoskeletal disorder like congenital talipes equino varus. The lesion can involve skin only or goes to deeper str...
BACKGROUND Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. Brain MRI showed brain atrophy, delayed myelination, and simplified gyriform pattern. METHODS We report ASD deficiency in a 2- and 4-year-old sibling. On them,...
ABSTRACT Cutis laxa is a congenital disorder transmitted as autosomal ressesive and dominate trait. This disorder has an acquired form that develops after febrile illness or skin inflammatory fisease. A 5 month old girl with generalized loose skin and these facial features including a hooked nose with everted nosetrils, long filtrom, high arch palate, wide fontanels, hypertelorism, e...
Red cell aplasia in children is a condition characterised by failure of erythropoiesis, with normal production of white blood cells and platelets. The disorder is either acquired or constitutional (congenital or inherited). The constitutional disorder is usually permanent, while the acquired variety is often transient, and thereby differs from adult pure red cell aplasia. As the treatment and p...
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