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Facies (medical)
In medical contexts, a facies is a distinctive facial expression or appearance associated with a specific medical condition. The term comes from Latin for "face". As a fifth declension noun, ''facies'' can be both singular and plural. Types Examples include: * Hippocratic facies – eyes are sunken, temples collapsed, nose is pinched with crusts on the lips, and the forehead is clammy * Moon face (also known as "Cushingoid facies") – Cushing's syndrome * Elfin facies – Williams syndrome * Potter facies – oligohydramnios * Mask like facies – parkinsonism * Leonine facies – lepromatous leprosy or craniometaphyseal dysplasia * Mitral facies – mitral stenosis * Amiodarone facies (deep blue discoloration around malar area and nose) * Acromegalic facies – acromegaly * Flat facies – Down syndrome * Marfanoid facies – Marfan's syndrome * Snarling facies – myasthenia gravis * Myotonic facies – myotonic dystrophy * Torpid facies – myxoedema * Mouse facie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Crouzon Syndrome
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. This syndrome is named after Octave Crouzon, a French physician who first described this disorder. First called "craniofacial dysostosis" ("craniofacial" refers to the skull and face, and " dysostosis" refers to malformation of bone), the disorder was characterized by a number of clinical features which can be described by the rudimentary meanings of its former name. This syndrome is caused by a mutation in the fibroblast growth factor receptor 2 (''FGFR2''), located on chromosome 10. The developing fetus's skull and facial bones fuse early or are unable to expand. Thus, normal bone growth cannot occur. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitral Facies
Mitral facies is a distinctive facial appearance associated with mitral stenosis. Someone with mitral stenosis may present with rosy cheeks, whilst the rest of the face has a bluish tinge due to cyanosis Cyanosis is the change of body tissue color to a bluish-purple hue as a result of having decreased amounts of oxygen bound to the hemoglobin in the red blood cells of the capillary bed. Body tissues that show cyanosis are usually in locations .... This is especially so in severe mitral stenosis. Because low cardiac output in mitral stenosis produces vasoconstriction, peripheral cyanosis is often seen in the lips, the tip of nose, and the cheeks. Occasionally, along with these, malar flush is seen, because of vasodilation (vascular stasis) in the malar area. References http://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_stenosis.html Medical signs {{med-sign-stub eu:Fazies (medikuntza) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Torpid Facies
Torpor is a state of decreased physiological activity in an animal, usually marked by a reduced body temperature and metabolic rate. Torpor enables animals to survive periods of reduced food availability. The term "torpor" can refer to the time a hibernator spends at low body temperature, lasting days to weeks, or it can refer to a period of low body temperature and metabolism lasting less than 24 hours, as in "daily torpor". Animals that undergo daily torpor include birds (even tiny hummingbirds, notably Cypselomorphae) and some mammals, including many marsupial species, rodent species (such as mice), and bats. During the active part of their day, such animals maintain normal body temperature and activity levels, but their metabolic rate and body temperature drop during a portion of the day (usually night) to conserve energy. Some animals seasonally go into long periods of inactivity, with reduced body temperature and metabolism, made up of multiple bouts of torpor. This is kno ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myotonic Dystrophy
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles are often unable to relax after contraction. Other manifestations may include cataracts, intellectual disability and heart conduction problems. In men, there may be early balding and an inability to have children. While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s. Myotonic dystrophy is caused by a genetic mutation in one of two genes. Mutation of the '' DMPK'' gene causes myotonic dystrophy type 1 (DM1). Mutation of '' CNBP'' gene causes type 2 (DM2). DM is typically inherited from a person's parents, following an autosomal dominant inheritance pattern, and it generally worsens with each generation. A type of DM1 may be apparent at birth. DM2 is generally milder. Diagnosis is confirmed by genetic testing. There is no cure. Treatments may include braces or wheelchairs, pacemakers and non ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myotonic Facies
Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed relaxation (prolonged contraction) of the skeletal muscles after voluntary contraction or electrical stimulation. Myotonia is the defining symptom of many channelopathies such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. Generally, repeated contraction of the muscle can alleviate the myotonia and relax the muscles thus improving the condition, however, this is not the case in paramyotonia congenita. This phenomenon is known as the "warm-up" reflex and is not to be confused with warming up before exercise, though they may appear similar. Individuals with the disorder may have trouble releasing their grip on objects or may have difficulty rising from a sitting position and a stiff, awkward gait. Myotonia can affect all muscle groups; however, the pattern of affected muscles can vary depending on the specific disorder involved. People with disorders involvi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myasthenia Gravis
Myasthenia gravis (MG) is a long-term neuromuscular junction disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face, and swallowing. It can result in double vision, drooping eyelids, trouble talking, and trouble walking. Onset can be sudden. Those affected often have a large thymus or develop a thymoma. Myasthenia gravis is an autoimmune disease of the neuro-muscular junction which results from antibodies that block or destroy nicotinic acetylcholine receptors (AChR) at the junction between the nerve and muscle. This prevents nerve impulses from triggering muscle contractions. Most cases are due to immunoglobulin G1 (IgG1) and IgG3 antibodies that attack AChR in the postsynaptic membrane, causing complement-mediated damage and muscle weakness. Rarely, an inherited genetic defect in the neuromuscular junction results in a similar condition known as congenital myasthenia. Babies of mothers with myasthe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Snarling Facies
A snarl is a sound, often a growl or vicious utterance, often accompanied by a facial expression, where the upper lip is raised, and the nostrils widen, generally indicating hate, anger or pain. In addition to humans, other mammals including monkeys, rabbits and dogs snarl, often to warn others of their potential bite. In humans, snarling uses the levator labii superioris alaeque nasi muscle. The threatening vocalizations of snarling are often accompanied by or used synonymously with threatening facial expressions. The word "snarl" is also used as an onomatopoeia for the threatening noise to which it refers, as in the 'snarl' of a chainsaw. This usage may derive from the common expression describing a dog as "growling and snarling". One literary use of "snarl" to mean a noise is in ''The Lord of the Rings ''The Lord of the Rings'' is an epic high-fantasy novel by English author and scholar J. R. R. Tolkien. Set in Middle-earth, intended to be Earth at some time ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marfan's Syndrome
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms is variable. MFS is caused by a mutation in ''FBN1'', one of the genes that makes fibrillin, which results in abnormal connective tissue. It is an autosomal dominant disorder. In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. Diagnosis is often based on the Ghent criteria. There is no known cure for MFS. Many of those with the disorder have a normal life expectancy with proper treatment. Management oft ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marfanoid Facies
Marfanoid (or Marfanoid habitus) is a constellation of symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity. __TOC__ Signs and symptoms Arachnodactyly (long fingers), long limbs, scoliosis (curved spine), a hidden feature of bony lip growth towards vestibular aqueduct (which can be seen in CT scan reports), and imprecise articulation of speech due to high-arched palate are all considered Marfanoid symptoms. Language and cognition can be affected in neonatal Marfan syndrome where intellectual disability exists. Hearing may be impaired, either by conductive loss due to hypermobility of ossicles, by inflamed tympanic membrane, or sensorineurally through the vestibular aqueduct. In cases with hearing impairment, giddiness and imbalance may co-occur. Other symptoms include crowding of teeth and long or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an eight- or nine-year-old child, but this can vary widely. The parents of the affected individual are usually genetically normal. The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45. The extra chromosome is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing. Since the introduction of screening, Down syndrome pregnancies are often abor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Flat Facies
Flat or flats may refer to: Architecture * Flat (housing), an apartment in the United Kingdom, Ireland, Australia and other Commonwealth countries Arts and entertainment * Flat (music), a symbol () which denotes a lower pitch * Flat (soldier), a two-dimensional toy soldier made of tin or plastic * Flat (theatre), a flat piece of theatrical scenery * Flat, a leading type of wordplay, as identified by the National Puzzlers' League * ''Flat!'' (2010), an Indian film * Flats (band), an English band * Flats (comics), the first stage in the comic coloring process Footwear * Flats, footwear which is not high-heeled * Ballet flats, derived from ballet shoes, for casual wear as well as dancing * Ballet shoes (also known as ballet slippers), often referred to as "flats" or "flat shoes" * Racing flats, lightweight shoes used primarily for running a race Geography Landforms * Flat (landform), a relatively level area within a region of greater relief Bodies of water * Flat, a shallow wa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acromegaly
Acromegaly is a disorder that results from excess growth hormone (GH) after the growth plates have closed. The initial symptom is typically enlargement of the hands and feet. There may also be an enlargement of the forehead, jaw, and nose. Other symptoms may include joint pain, thicker skin, deepening of the voice, headaches, and problems with vision. Complications of the disease may include type 2 diabetes, sleep apnea, and high blood pressure. Acromegaly is usually caused by the pituitary gland producing excess growth hormone. In more than 95% of cases the excess production is due to a benign tumor, known as a pituitary adenoma. The condition is not inherited from a person's parents. Acromegaly is rarely due to a tumor in another part of the body. Diagnosis is by measuring growth hormone after a person has consumed a glucose solution, or by measuring insulin-like growth factor I in the blood. After diagnosis, medical imaging of the pituitary is carried out to determine if an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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