|
Fibular Hemimelia
Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities." It is the shortening of the fibula at birth, or the complete lack thereof. Fibular hemimelia often causes severe knee instability due to deficiencies of the ligaments. Severe forms of fibula hemimelia can result in a malformed ankle with limited motion and stability. Fusion or absence of two or more toes are also common. In humans, the disorder can be noted by ultrasound in utero to prepare for amputation after birth or complex bone lengthening surgery. The amputation usually takes place at six months with removal of portions of the legs to prepare them for prosthetic use. The other treatments, which include repeated corrective osteotomies and leg-lengthening surgery ( Ilizarov apparatus), are costly and associated with residual deformity. Characteristics Characteristics are: * A fibrous band instead of the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aled Davies (field Athlete)
Aled Siôn Davies (born 24 May 1991) is a Welsh Paralympian athlete competing mainly in category F42 throwing events. In 2012 he became the world record holder of the F42 shot put and in the 2012 Summer Paralympics he took the bronze medal in shot put and gold in the discus. In 2013 Davies took the World Championship gold in both the shot put and discus in Lyon. He won double gold in his home country at the 2014 IPC Athletics European Championships in the shot put and discus. This followed his silver medal in the F42-44 discus from the Commonwealth Games in Glasgow where he represented Wales. Davies also took part in the Channel 4 TV series Celebrity SAS: Who dares wins (series 3) Personal life Davies was born in Bridgend, South Wales in 1991. He was born with hemimelia of the right leg. From a young age Davies enjoyed sports, representing Wales as a child at swimming. Athletics career Early career In 2005 Davies switched to athletics deciding to commit to the shot put a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders Of Musculoskeletal System
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial Disease
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies. Types Examples of mitochondrial diseases include: * Mitochondrial myopathy * Diabetes mellitus and deafness (DAD) ** this combination at an early age can be due to mitochondrial disease ** Diabetes mellitus and deafness can be found together for other reasons * Leber's hereditary optic neuropathy (LHON) ** visual loss beginning in young adulthood ** eye disorder characterized by progressive loss of central v ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Anomalies
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Congenital Disorders
List of congenital disorders {{TOC right Numerical * 5p syndrome - see Cri du chat syndrome A * Albinism * Amelia and hemimelia * Amniotic band syndrome * Anencephaly * Angelman syndrome * Aposthia * Arnold–Chiari malformation B * Bannayan–Zonana syndrome * Bardet–Biedl syndrome * Barth syndrome * Basal-cell nevus syndrome * Beckwith–Wiedemann syndrome * Benjamin syndrome * Bladder exstrophy * Bloom syndrome * Brachydactyly * Breathing Genitalia C * Cat eye syndrome * Caudal regression syndrome * Sotos syndrome Cerebral Gigantism * CHARGE syndrome * Chromosome 16 abnormalities * Chromosome 18 abnormalities * Chromosome 20 abnormalities * Chromosome 22 abnormalities * Cleft lip/palate * Cleidocranial dysostosis * Club foot * Congenital adrenal hyperplasia (CAH) * Congenital central hypoventilation syndrome * Congenital diaphragmatic hernia (CDH) * Congenital Disorder of Glycosylation (CDG) * Congenital hyperinsulinism * Congenital insensitiv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Abnormality
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hunter Woodhall
Hunter Woodhall (born on February 17, 1999) is an American track and field athlete. He won a bronze medal in the Men's 400m T62 at the 2020 Summer Paralympics. On 16 October 2022, Woodhall married his longtime girlfriend, Olympian Tara Woodhall. He made his international debut in 2015 with a silver and bronze medal at the 2015 IPC Athletics World Championships, and later won a bronze and silver medal at the 2016 Summer Paralympics. After graduating from Syracuse High School, he became the first double amputee to earn an NCAA Division I scholarship. Early life Woodhall was born in Georgia while his father was serving in the military. Woodhall's parents decided to amputate both his legs at 11 months old due to fibular hemimelia. Raised in Syracuse, Utah, he was homeschooled until fifth grade and upon entering public school he was bullied for his disability. Although he was originally given prosthetic legs, Woodhall switched to carbon fiber "blades" for running and joined a trac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Erik Stolhanske
Broken Lizard is an American comedy troupe that comprises Jay Chandrasekhar, Kevin Heffernan, Steve Lemme, Paul Soter, and Erik Stolhanske. They collaborate on the screen-writing, acting and productions of their films, with Chandrasekhar and Heffernan being the primary directors; the team however does not have any single leader and they work collaboratively when choosing material and writing projects. History The group formed at Colgate University in 1989 when Jay Chandrasekhar was asked by a friend and fellow student, Ira Liss, to put together a comedy show. Chandrasekhar agreed and assembled a sketch comedy troupe which included Kevin Heffernan, Steve Lemme, Paul Soter, and Erik Stolhanske, all members of the Beta Theta Pi fraternity. The team performed a combination of live stage sketches and short videos under the name "Charred Goosebeak". Charred Goosebeak continues to exist at Colgate to this day. After graduation, the members reunited in New York City and spent th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Long Jeanne Silver
Long Jeanne Silver is an American former pornographic actress, known for using the stump of her amputated leg to penetrate her sexual partner in her movies during the 1970s and 1980s.'Jeanne Silver: Real Wild Child', The Rialto Report: Audio interview with Jeanne Silver Silver was born in Tempe, Arizona. She was born with a missing fibula in one leg which required the bottom half of it to be amputated. She ran away from home at age 16 in 1976 to go to New York City, where she would soon begin to pose for adult magazines and perform in porn films. Prior to pornography, she also had worked as a stripper. She was also featured in the self-titled movie, ''Long Jeanne Silver''. She also was a centerfold for ''Cheri'' magazine. Annie Sprinkle and Silver were once arrested in Rhode Island for producing a magazine that featured a shoot in which Silver penetrated Sprinkle with her stump. The typesetter the magazine hired turned out to be an undercover police officer. The police surveil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oscar Pistorius
Oscar Leonard Carl Pistorius (; ; born 22 November 1986) is a South African convicted murderer and former professional sprinter. Both of his feet were amputated when he was 11 months old owing to a congenital defect; he was born missing the outside of both feet and both fibulae. Pistorius ran in both nondisabled sprint events and in sprint events for below-knee amputees. He was the 10th athlete to compete at both the Paralympic Games and Olympic Games. After becoming a Paralympic champion, Pistorius attempted to enter nondisabled international competitions, over persistent objections by the International Association of Athletics Federations (IAAF) and arguments that his artificial limbs gave an unfair advantage. Pistorius prevailed in this legal dispute. At the 2011 World Championships in Athletics, Pistorius was the first amputee to win a nondisabled world track medal. At the 2012 Summer Olympics, Pistorius was the first double-leg amputee participant. On 14 February 20 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aimee Mullins
Aimee Mullins is an American athlete, actress, and public speaker. She was born with a medical condition that resulted in the amputation of both of her legs beneath the knee. She is the first amputee to compete against able-bodied athletes in National Collegiate Athletic Association events, and competed in the Paralympics in 1996 in Atlanta. In 1999, she began modeling, and, in 2002, she began an acting career. She has periodically spoken at conferences, including TED Talks. Early life and education Mullins was born in Allentown, Pennsylvania to an Irish father Bernard Mullins from Crusheen, County Clare, Ireland and mother Bernadette Mullins. She was born with fibular hemimelia (missing fibula bones). As a result, both her legs were amputated below the knee when she was one year old. Her parents were told she would likely use a wheelchair for the rest of her life and never walk, but by the age of two she had learned to walk with prosthetic legs. She took up sports and acting ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
