نتایج جستجو برای: congenital disorders
تعداد نتایج: 776325 فیلتر نتایج به سال:
BACKGROUND A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders. We describe here the case of an infant with a novel mutation of the NKX2.1 gene characterized by mild clinical presentation. Aim of the study was to elucidate the genotype-phenotype correlation in ou...
Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed linkage analysis, whole-exome and whole-genome sequencing to determine the underlying defect in patients with an inherited limb-girdle pattern of myasthenic weakness. We ident...
Endocochlear, retrocochlear and/or central origin hearing damage may be related to the absence of appropriate levels of thyroid hormone during morphogenesis and/or auditory system development. Hearing disorders related to the thyroid are not well studied, despite speculation on the pathophysiological mechanisms. The objective of this review was to characterize the main pathophysiological mechan...
without significant bone anomalies was unlikely as child did not have affected relatives. There are wide variety of congenital or hereditary disorders in which there is total or partial absence of nails. These disorders are usually associated with other major congenital anomalies. Fetal phenytoin syndrome occurs approximately 7 to 10% of all babies exposed to phenytoin during pregnancy. The fea...
epidermal nevus syndrome is a rare congenital disorder, characterized by epidermal nevi and multiple organ involvement. multicystic kidney disease has been very rarely reported in this syndrome. here is the report of a boy presented with multiple epidermal nevi, cardiac anomaly, seizure attack, hemi hypertrophy, and multicystic dysplastic kidney complicated with wilms' tumor. according to this ...
Epigenetics is an intrinsic mechanism that alters gene function - not by altering DNA sequences, but by chemically modifying the DNA and chromosomal histone proteins. Epigenetics is involved in genomic imprinting and X-chromosome inactivation in humans, and the failure of this mechanism causes a subset of congenital syndromes and cancers. Until recently, it has been believed that epigenetic mod...
BACKGROUND Congenital bronchial atresia is a rare anomaly, which usually presents in adulthood as an incidental finding on routine examinations. CASE PRESENTATION In this report we present a patient with a cavitary lesion at his right upper lobe, found by chance on chest radiography. Computed tomography of the chest revealed the characteristic findings of a mucocele with distal oligemia and h...
Background & aim: Various uterine disorders lead to infertility in women of reproductive ages. This study was performed to describe the common uterine causes of infertility and sonographic evaluation of these causes for midwives. Methods: This literature review was conducted on the manuscripts published at such databases as Elsevier, PubMed, Google Scholar, and SID as well as the original text ...
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