Mindblown: a blog about philosophy.
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Fetal hydantoin syndrome
Fetal hydantoin syndrome (FHS) is caused by the anticonvulsant drug (AED) phenytoin (Dilantin). Phenytoin is a prenatal teratogen, causing a variety of physical defects, including infant failure to thrive, dysmorphic facies and other physical abnormalities, growth deficiency, and mental retardation, usually mild. The effects, particularly craniofacial, of prenatal exposure to phenytoin are so similar to…
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Fetal aminopterin
Aminopterin is a folic acid antagonist occasionally used as an abortifacient (a drug to induce an abortion) in early pregnancy; methotrexate, the methyl derivative of aminopterin and also an abortifacient, is used to treat rheumatoid arthritis and psoriasis. Offspring of mothers treated with either drug early in pregnancy may show a complex of craniofacial, growth,…
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Femoral hypoplasia unusual facies syndrome
Femoral hypoplasia-unusual facies syndrome (FH-IJFS) is an exceedingly rare disorder. Its main features include short stature, mildly dysmorphic facial features, and absent or underdeveloped bones of the lower extremity. Short stature is the result of severely shortened legs.
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Fairbank disease
Fairbank disease is the name for one of two traditional categories of multiple epiphyseal dysplasia, or MED. Although other variations of MED are recognized, diagnoses are still often labeled by the former names. The Fairbank variant is the more severe of the two, and the milder version is referred to as the Ribbing variant. The…
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Fabry disease
Fabry disease, also known as angiokeratoma corpris diffusum, is a disorder of lipid metabolism caused by an a-galactosidase-A deficiency, which leads to accumulation of glycolipid products in various muscle tissues and cells in the nervous system. Individuals inherit Fabry disease as an X-linked recessive trait. It is caused by the gene located on the long…
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Erythrokeratodermia with ataxia
Erythrokeratodermia with Ataxia, also known as Giroux- Barbeau syndrome, was first reported in 1972. In infancy and childhood, erythrokeratodermia with ataxia presents with groups of red, hardened, scaly skin plaques developing into a neurological syndrome in early adulthood consisting of impaired muscle coordination (ataxia), dysarthria (poorly articulated speech), decreased tendon reflexes, and involuntary, rhythmic movements…
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Eosinophilic fasciitis
Eosinophilic fasciitis (Shulman’s syndrome) involves inflamed fascia (layer of fibrous tissue below the skin) and muscles of the extremities due to eosinophil (a certain type of white blood cells) infiltration, which causes tenderness and swelling. It is classified as a diffuse connective tissue disease. The arms and forearms are affected more often than are the…
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Engelmann disease
Engelmann disease is a rare genetic disorder characterized by progressive widening and malformation of the shafts of the long bones (diaphyseal dysplasia). This disease is also referred to as Camurati-Engelmann disease, osteoathia hyperostotica scleroticans multiplex infantalis, progressive diaphyseal dysplasia, or ribbing disease. This is a rare, hereditary condition characterized by progressive bone dysplasia, which refers…
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Endocardial fibroelastosis
Characterized by an increased amount of connective tissue and elastic fibers causing a thickening in the muscular lining of the heart, endocardial fibroelastosis (EFE) is a rare condition eventually leading to congestive heart failure if it is not diagnosed early. Whereas some studies advocate that EFE may be the result of an X-linked, autosomal recessive…
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Postinfectious measles encephalitis
Postinfectious measles encephalitis is an autoimmune response characterized by inflammation and demyelination that is triggered by the measles virus. The measles virus is transmitted through respiratory droplets and is thought to have impacted civilizations as early as 4000 B.C. A young Danish physician, Peter L. Panum, however, is credited with much of the information that…
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