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Hace 5 días · Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly that is recognizable at birth, and which is significant enough to be considered a problem.
Hace 1 día · Down syndrome. Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.
Hace 1 día · Background: In the wake of the coronavirus disease 19 (COVID-19) pandemic, affecting healthcare systems globally, urgent research is needed to understand its potential repercussions on the diagnosis and management of cardiovascular disorders. This emphasises the importance of detecting coronary artery anomalies (CAAs), rare conditions that can range from benign to potentially life-threatening ...
Hace 5 días · May-Hegglin anomaly (MHA) is an autosomal dominant disorder characterized by various degrees of thrombocytopenia that may be associated with purpura and bleeding; giant platelets containing few...
Hace 3 días · CNS congenital anomalies are birth defects of the physical structure of the brain or spinal cord that develop in utero, or when a fetus is developing during pregnancy. This blanket term encompasses a broad range of disorders and medical conditions, from minor abnormalities to severe ones.
Hace 3 días · The American Journal of Medical Genetics - Part A is your primary source for all biological and medical aspects of inherited disorders and birth defects research. Abstract Baraitser–Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial f...
Hace 5 días · Updated: May 22, 2024. Author: Vikramjit S Kanwar, MBBS, MBA, MRCP (UK), FRCPCH, FAAP; Chief Editor: Hassan M Yaish, MD more... Print. Approach Considerations. The literature is conflicting, but...
