Pediatrics – Congenital Anomalies: By Daryl Scott M.D. скачать в хорошем качестве

Pediatrics – Congenital Anomalies: By Daryl Scott M.D.

medskl.com is a global, free open access medical education (FOAMEd) project covering the fundamentals of clinical medicine with animations, lectures and concise summaries. medskl.com is working with over 170 award-winning medical school professors to provide content in 200+ clinical presentations for use in the classroom and for physician CME. Pediatrics – Congenital Anomalies Whiteboard Animation Transcript with Daryl Scott, MD https://medskl.com/Module/Index/conge... Congenital anomalies encompass a range of abnormalities affecting the structure and/or function of different organs. These abnormalities can be caused by genetic changes, environmental factors, and/or teratogenic exposures. Anomalies can be classified as malformations, deformations, disruptions, or dysplasias. Malformations are defects where a structure is either abnormally formed, partially formed, or is not formed at all. They can be major, meaning they often have medical consequences and require surgical repair, or minor, in which case the consequence is mostly cosmetic. Deformation is the abnormal modification of a normally forming structure, usually due to intrauterine factors, such as decreased amniotic fluid. Disruptions are defects that occur due to vascular or mechanical processes causing tissue compromise in an otherwise normally developing structure. Dysplasias are tissue malformations due to intrinsic abnormalities at the level of cellular organization. Congenital anomalies can often occur together in patterns. Patterns of anomalies that create a recognizable phenotype are known as syndromes. This is often due to a single causative event, such as a chromosomal abnormality. When a single major anomaly alters the subsequent development of other structures, this pattern of defects is called sequence. Anomalies that occur together more frequently than expected by chance alone are called associations. However, these usually don’t have a well-defined, unifying etiology. In many cases, a careful review of the medical and family history, a detailed physical exam can suggest an underlying etiology. If a genetic cause is suspected, cytogenetic, biochemical, and/or molecular studies may be warranted. While management is specific to the diagnosis, always remember to include parental counselling and support.