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Published on BioPortfolio: 2014-12-08T11:46:13-0500
The goal of this study is to better characterize the metabolic alterations and sugar structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital Disorders of ...
Our hope is that the information from this retrospective study will provide information to better serve our patients and their parents with risk stratification (levels of risk) and clinica...
It is now estimated that the number of adults with congenital heart disease in the U.S is over 800,000. Unfortunately, these patients, in some way, have become a lost population. They hav...
Primary Objective: To evaluate the use of unilateral or bilateral VEPTR devices, with or without expansion thoracoplasty, for preventing further progression of the Cobb angle, allowing for...
The aim of this study was to investigate the effect of percutaneous kirschner wire in management of Congenital Pseudarthrosis of Tibia in children younger than 1 year of age. This study wa...
Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their con...
To clinically characterize and compare two types of corneal abnormalities in patients with congenital aniridia: 1) congenital central corneal opacity from birth (CCO) and 2) aniridia-associated kerato...
In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA).
Congenital dyserythropoietic anemias are rare blood disorders characterized by congenital anemia and a wide range of morphological and functional abnormalities of erythroid precursors.
The acronym TORCH is used to refer to congenital infections, such as toxoplasmosis, other infections (such as syphillis, varicella-zoster, and parvovirus B19), cytomegalovirus, and herpes simplex viru...
Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.
Congenital abnormalities that affect more than one organ or body structure.
Congenital structural abnormalities of the mouth and jaws, including the dentition.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.