Dolichostenomelia
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Dolichostenomelia
Dolichostenomelia is a human condition or habitus in which the limbs are unusually long. The name is derived from Ancient Greek (''dolichos'' - long, ''steno'' - short, narrow, close, ''melia'' - of the limbs). It is a common feature of several kinds of hereditary disorders which affect connective tissue, such as Marfan syndrome and homocystinuria. __TOC__ In fiction The condition is mentioned in the Rizzoli & Isles episode Boston Strangler Redux; Maura Isles (Sasha Alexander) is on a date with a man whom she diagnoses as having Marfan Syndrome, which she says "explains the dolichostenomelia." See also * Arachnodactyly Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the ... References Musculoskeletal disorders {{musculoskeletal-disease-stub ...
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Marfan 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 of ...
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Homocystinuria
Homocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate. Signs and symptoms This defect leads to a multi-systemic disorder of the connective tissue, muscles, central nervous system (CNS), and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of the amino acid homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and early symptoms, if any are present, are vague. Signs and symptoms of homocystinuria that may be seen include the following: Cause It is usually caused by the deficiency of the enzyme cystathi ...
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Human
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established a wide variety of values, social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus ''Homo'', in common usage, it generally refers to ''Homo sapiens'', the only extant member. Anatomically moder ...
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Medical Condition
A disease is a particular abnormal condition that negatively affects the structure or function (biology), function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergy, allergies and autoimmune disorders. In humans, ''disease'' is often used more broadly to refer to any condition that causes pain, Abnormality (behavior), dysfunction, distress (medicine), distress, social problems, or death to the person affected, or similar problems for those in contact with the person. In this broader sense, it sometimes includes injury, injuries, disability, disabilities, #Disorder, disorders, s ...
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Habitus (medicine)
Habitus may refer to: * Habitus (biology), a term commonly used in biology as being less ambiguous than "habit" * Habitus (sociology), embodied dispositions or tendencies that organize how people perceive and respond to the world around them * '' Habitus: A Diaspora Journal'' * ''Habitus'', a 1998 novel by James Flint See also * Habit (biology) Habit, equivalent to habitus in some applications in biology, refers variously to aspects of behaviour or structure, as follows: *In zoology (particularly in ethology), habit usually refers to aspects of more or less predictable ''behaviour'', i ...
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Connective Tissue
Connective tissue is one of the four primary types of animal tissue, along with epithelial tissue, muscle tissue, and nervous tissue. It develops from the mesenchyme derived from the mesoderm the middle embryonic germ layer. Connective tissue is found in between other tissues everywhere in the body, including the nervous system. The three meninges, membranes that envelop the brain and spinal cord are composed of connective tissue. Most types of connective tissue consists of three main components: elastic and collagen fibers, ground substance, and cells. Blood, and lymph are classed as specialized fluid connective tissues that do not contain fiber. All are immersed in the body water. The cells of connective tissue include fibroblasts, adipocytes, macrophages, mast cells and leucocytes. The term "connective tissue" (in German, ''Bindegewebe'') was introduced in 1830 by Johannes Peter Müller. The tissue was already recognized as a distinct class in the 18th century. ...
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Rizzoli & Isles
''Rizzoli & Isles'' is an American crime drama television series starring Angie Harmon as Jane Rizzoli and Sasha Alexander as Maura Isles. Based on the series of ''Rizzoli & Isles'' novels by Tess Gerritsen, the plot follows Boston Homicide police detective Jane Rizzoli and Chief Medical Examiner Dr. Maura Isles combining their experiences and strikingly different personalities to solve cases. It premiered on TNT on July 12, 2010 and aired 105 episodes in seven seasons, concluding on September 5, 2016. Premise The series' backstory is inspired by the Maura Isles/Jane Rizzoli series of novels by Tess Gerritsen. Rizzoli appears in the series' first novel, ''The Surgeon'', and Isles is introduced in the second, ''The Apprentice'', which serves as the basis for the television series. Boston detective Jane Rizzoli has been investigating a serial killer named Charles Hoyt. Hoyt, who was banned from medical school for fondling a corpse, used his vast medical knowledge to systematically ...
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Maura Isles
''Rizzoli & Isles'' is an American crime drama television series starring Angie Harmon as Jane Rizzoli and Sasha Alexander as Maura Isles. Based on the series of ''Rizzoli & Isles'' novels by Tess Gerritsen, the plot follows Boston Homicide police detective Jane Rizzoli and Chief Medical Examiner Dr. Maura Isles combining their experiences and strikingly different personalities to solve cases. It premiered on TNT on July 12, 2010 and aired 105 episodes in seven seasons, concluding on September 5, 2016. Premise The series' backstory is inspired by the Maura Isles/Jane Rizzoli series of novels by Tess Gerritsen. Rizzoli appears in the series' first novel, ''The Surgeon'', and Isles is introduced in the second, ''The Apprentice'', which serves as the basis for the television series. Boston detective Jane Rizzoli has been investigating a serial killer named Charles Hoyt. Hoyt, who was banned from medical school for fondling a corpse, used his vast medical knowledge to systematically ...
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Sasha Alexander
Sasha Alexander (born Suzana Drobnjakovic on May 17, 1973), is an American actress and TV director. She played Gretchen Witter in ''Dawson's Creek'' and has acted in films including '' Yes Man'' (2008) and ''He's Just Not That Into You'' (2009). Alexander played Caitlin Todd for the first two seasons of '' NCIS'' (2003–2005). From July 2010 through September 2016, Alexander starred as Maura Isles in the TNT series ''Rizzoli & Isles'' and was a regular in Season 5 and 6 of '' Shameless'' in 2015-2016. Early life Alexander, who is of Serbian descent, was born Suzana Drobnjakovic in Los Angeles, California. She began acting in school productions in the seventh grade. She was also an ice skater, but stopped due to a knee injury. She continued acting through high school and college, then moved to New York City to act in summer stock and Shakespeare festivals. She graduated from the University of Southern California's School of Cinema-Television, where she was a member of th ...
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Arachnodactyly
Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the condition are pulled inwards towards the palm. This condition is present at birth. Causes This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, Ehlers–Danlos syndromes, Loeys–Dietz syndrome, and homocystinuria. It is also seen in congenital contractural arachnodactyly, which is caused by mutation in the gene encoding fibrillin-2 on chromosome 5q23. Notable cases It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly due to Marfan syndrome, as the pianist exhibited no other signs of the disease. It is also uncertain if blues guitarist and vocalist Robert Johnson's ...
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