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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]
Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body. [3] [1] There may also be short ribs, less fat, and breast and nipple abnormalities on the same side of the body. [1]
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
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The drug was withdrawn from world market when it became evident that the use in pregnancy causes phocomelia (clinical conditions where babies are born with deformed hand and limbs). Later in late 1970s studies indicated that the (R)- enantiomer is an effective sedative, the (S)-enantiomer harbors teratogenic effect and causes fetal abnormalities.
Roberts reported a disease that was characterized by phocomelia, cleft lip, cleft palate, and a protrusion of the intermaxillary region in three siblings of an Italian couple who were first cousins, which made Roberts syndrome acquisition more likely for their children due to the disease's autosomal recessive nature.
This syndrome is caused by mutations in the establishment of cohesion 1 homolog 2 gene. [3]This gene is located on the short arm of chromosome 8 (8p21.1). Mutations in this gene also cause Roberts/SC phocomelia syndrome.
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