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Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined. [2]
external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome; teratogenic drugs (e.g. thalidomide, which causes phocomelia) or environmental chemicals; ionizing radiation (nuclear weapons, radioiodine, radiation therapy) infections; metabolic imbalance
Mercédes Benegbi, born with phocomelia of both arms, drove the successful campaign for compensation from her government for Canadians who were affected by thalidomide. [ 52 ] Mat Fraser , born with phocomelia of both arms, is an English rock musician, actor, writer and performance artist.
Created Date: 8/30/2012 4:52:52 PM
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Hecht Scott syndrome (also known as fibular aplasia–tibial campomelia–oligosyndactyly [FATCO] syndrome) is a rare genetic disease that causes congenital limb formation. [ citation needed ] The main characterisation is the aplasia or hypoplasia of bones (mainly the fibula or tibia ) of the limb. [ 1 ]
He explains that these mutations eventually cause a protein imbalance and water and salt in the body's cells to surface, "resulting in mucus becoming thick and sticky, and difficulty clearing ...
Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology caused by teratogens and also in pharmacology and toxicology.