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Encyclopedia results for Achondroplasia

Achondroplasia





Encyclopedia results for Achondroplasia

  1. Achondroplasia

    Infobox disease Name Achondroplasia ICD10 ICD10 Q 77 4 q 65 ICD9 ICD9 756.4 Image Jason Acu a Wee Man ... in the entourage of Infanta Margarita Achondroplasia dwarfism pron en k ndr ple zi occurs as a sporadic ... are affected with the gene. If both parents of a child have Achondroplasia, and both parents ... Mortality in achondroplasia study A 42 year follow up journal Am. J. Med. Genet. A volume 143 issue ..., FGFR3 has a negative regulatory effect on bone growth. In Achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely shortened bones. People with achondroplasia ... has to be present for the disorder to occur. Therefore, a person with achondroplasia has a 50 ... child will have achondroplasia. Since it is fatal to have two copies homozygous , if two people with achondroplasia have a child, there is a 25 chance of the child dying shortly after birth, a 50 chance the child will have achondroplasia, and a 25 chance the child will have an average phenotype . People with achondroplasia can be born to parents that do not have the condition. This is the result ... C title Achondroplasia From genotype to phenotype journal Joint Bone Spine volume 75 issue 2 pages 125 30 year 2007 pmid 17950653 doi 10.1016 j.jbspin.2007.06.007 ref New gene mutations leading to achondroplasia ... title Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism ... gene mutations for achondroplasia are exclusively inherited from the father and occur during spermatogenesis ... allele . More than 99 of achondroplasia is caused by two different mutations in the fibroblast ... other syndromes with a genetic basis similar to achondroplasia hypochondroplasia and thanatophoric dysplasia . Diagnosis Achondroplasia can be detected before birth by the use of Prenatal ... . Radiologic findings A skeletal survey is useful to confirm the diagnosis of achondroplasia ... Pelvis cite web url http www.stevensorenson.com residents6 achondroplasia pelvis.htm title Achondroplasia ...   more details



  1. Achondroplasia in children

    Orphan date December 2010 File Khagendra.png thumb Khagendra Achondroplasia is a somewhat well known anomaly in the human race. Mostly, achondroplasia seems prominent when seen in adults, but it affects ... their odds and create a stronger livelihood for them. TOC Achondroplasia Achondroplasia is the most ... Related Respiratory Abnormalities and Arousal Pattern in Achondroplasia during Early Infancy. ref . Achondroplasia falls into the category of disproportionate dwarfism . It is linked to a mutation in the fibroblast growth factor receptor 3. More than 250, 000 people in the world are diagnosed with Achondroplasia currently. Achondroplasia diagnosis occurs somewhere between one in every 10,000 to one in every 30,000 live births ref Horton, William A. Achondroplasia ref . Some symptoms of Achondroplasia ... head, mid face hypoplasia , and joint hyperextension, among other things. Achondroplasia is defined ... man or woman diagnosed with Achondroplasia is about four feet, although technically a max of four ... Supervision for Children With Achondroplasia ref . Achondroplasic people typically have a long trunk ... to lead independent and productive lives. Achondroplasia in Children File Vietnam Girl s Smile.jpg thumb Vietnam Girl s Smile A person child may be diagnosed with Achondroplasia as early as the fetus .... 85 of children born with Achondroplasia are born of parents who are average height and are not diagnosed with Achondroplasia. But 75 of all diagnosed children are the end product of an entirely new mutation. If both parents are diagnosed with Achondroplasia, however, there is a higher chance of life ... Risk for Sibs of Children with Sporadic Achondroplasia ref . There are specific ways to raise a child diagnosed with Achondroplasia that will be beneficial to their growth and aging. Achondroplasic ... are not diagnosed with Achondroplasia. Anticipated growth in Achondroplasic Children Because achondroplasic ... who is not diagnosed with Achondroplasia. It is very typical for an Achondroplasic child ...   more details



  1. SADDAN

    SADDAN severe achondroplasia with developmental delay and acanthosis nigricans is a rare inherited disorder of bone growth characterized by skeletal , brain , and skin abnormalities. All people with this condition are extremely short with particularly short arms and legs. Other signs and symptoms include unusual bowing of the leg bones a small chest with short ribs and curved collar bones short, broad fingers and folds of extra skin on the arms and legs. Structural abnormalities of the brain lead to seizures, profound developmental delay, and mental retardation. Acanthosis nigricans , a progressive skin disorder characterized by thick, dark, velvety skin, develops in infancy or early childhood. People with SADDAN often live into childhood and adulthood. Many of the features of SADDAN are similar to those seen in other skeletal disorders, specifically achondroplasia and thanatophoric dysplasia . Epidemiology This disorder is very rare it has been described in only a small number of individuals worldwide. References cite journal author Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA title Severe achondroplasia with developmental delay and acanthosis nigricans SADDAN phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3 journal Am J Med Genet year 1999 pages 53 65 volume 85 issue 1 pmid 10377013 doi 10.1002 SICI 1096 8628 19990702 85 1 53 AID AJMG10 3.0.CO 2 F cite journal author Cohen MM Jr title Some chondrodysplasias with short limbs molecular perspectives journal Am J Med Genet year 2002 pages 304 13 volume 112 issue 3 pmid 12357475 doi 10.1002 ajmg.10780 cite journal author Vajo, Zoltan , Francomano CA, Wilkin DJ title The molecular and genetic basis of fibroblast growth factor receptor 3 disorders the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans journal ...   more details



  1. Rhizomelia

    Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder. According to Stedman s medical dictionary Rhizomelic means relating to hip or shoulder joints , while Micromelic means having disproportionately short or small limbs . http www.stedmans.com section.cfm 45 See also Amelia birth defect Rhizomelic chondrodysplasia punctata External links GPnotebook 1872035792 http www.obgyn.ufl.edu ultrasound MedinfoVersion sec18 18 1c.html Photo click on link under Pattern of Shortening Category Congenital disorders of musculoskeletal system Disease stub ...   more details



  1. Hypochondroplasia

    achondroplasia or severe forms of hypochondroplasia journal Eur. J. Hum. Genet. volume 14 issue 12 pages .... Epidemiology Females tend to be affected more often than males. Also young children. See also Achondroplasia ...   more details



  1. Eduard Kaufmann

    Image Voit 200 Eduard Kaufmann.jpg thumb Eduard Kaufmann Eduard Kaufmann 1860 1931 was a Germany German physician. The disease Abderhalden Kaufmann Lignac syndrome is named for him. Career Kaufmann studied in Bonn and Berlin , and earned his doctorate from the University of Bonn in 1884. He was appointed Privatdozent for Anatomical pathology in Breslau three years later, and assisted at Emil Ponfick s institute. In 1896 Kaufmann became prosector at Allerheiligenhospital in Breslau and professor in 1897. In 1898 he became professor of Pathology and Anatomical pathology and head of the Pathological Anatomical Institute of the University of Basel . Kaufmann moved again in 1907 to G ttingen and finally withdrew from active work in 1927. Kaufmann undertook the first study of cartilage changes in achondroplasia . References Barry G. Firkin B. G. Firkin & Judith A. Whitworth J. A. Whitworth 1987 . Dictionary of Medical Eponyms . Parthenon Publishing . ISBN 1 85070 333 7 http www.whonamedit.com doctor.cfm 38.html Who Named It? Persondata Metadata see Wikipedia Persondata . NAME Kaufmann, Eduard ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH 1860 PLACE OF BIRTH DATE OF DEATH 1931 PLACE OF DEATH DEFAULTSORT Kaufmann, Eduard Category German physicians Category University of Bonn alumni Category 1860 births Category 1931 deaths Germany med bio stub ...   more details



  1. Shakespeare Baronets

    inline date April 2011 The Shakespeare Baronetcy , of Lakenham in the City of Norwich, is a title in the Baronetage of the United Kingdom . It was created in 1942 for the Liberal Party UK Liberal politician Sir Geoffrey Shakespeare, 1st Baronet Geoffrey Shakespeare . The third Baronet is a geneticist and sociologist. Shakespeare Baronets of Lakenham 1942 Sir Geoffrey Shakespeare, 1st Baronet Sir Geoffrey Hithersay Shakespeare, 1st Baronet 1893&ndash 1980 Sir William Geoffrey Shakespeare, 2nd Baronet 1927&ndash 1996 . Shakespeare was a highly respected general practitioner who practised at the Bedgrove Health Centre in Aylesbury . He had achondroplasia . He inherited the baronetcy in 1980 on the death of his father. The title passed to the eldest of his children, Tom Shakespeare, on his death in 1996. Tom Shakespeare Sir Thomas William Tom Shakespeare, 3rd Baronet b. 1966 The heir presumptive is James Douglas Geoffrey Shakespeare b. 1971 . References Kidd, Charles, Williamson, David editors . Debrett s Peerage and Baronetage 1990 edition . New York St Martin s Press, 1990. rayment b DEFAULTSORT Baronets, Shakespeare Category Baronetcies Shakespeare ...   more details



  1. Osteochondrodysplasia

    Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 ICD10 Q 77 q 65 ICD10 Q 78 q 65 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D010009 Osteochondrodysplasia is a general term for a disorder of the development dysplasia of bone osteo and cartilage chondro . ref name urlMedcyclopaedia Osteochondrodysplasia cite web url http www.medcyclopaedia.com library topics volume iii 1 o osteochondrodysplasia.aspx title Medcyclopaedia Osteochondrodysplasia format work accessdate ref Types Achondroplasia Main Achondroplasia Achondroplasia is a type of autosomal Dominance genetics dominant genetic disorder that is a common cause of dwarfism . Achondroplastic dwarfs have short stature , with an average adult height of 131 centimeter cm 4 Foot unit of measure feet , 3.8 inches for males and 123 cm 4 feet, 0.6 inches for females. The prevalence is approximately 1 in 25,000. ref name pmid17879967 cite journal author Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT title Mortality in achondroplasia study A 42 year follow up journal Am. J. Med. Genet. A volume 143 issue 21 pages 2502 11 year 2007 pmid 17879967 doi 10.1002 ajmg.a.31919 ref Cleidocranial dysostosis Main Cleidocranial dysostosis Cleidocranial dysostosis is a general skeletal condition so named from the collarbone cleido and Human cranium cranium deformities which people with it often have. Common features include Partly or completely missing collarbone s. A soft spot or larger soft area in the top of the head where the fontanelle failed to close. Bones and joints are underdeveloped. The permanent teeth include Hyperdontia supernumerary teeth . Permanent teeth not erupting Bossing bulging of the forehead . Hypertelorism Fibrous dysplasia Main Fibrous dysplasia Fibrous dysplasia causes bone thinning ref DorlandsDict three 000033238 fibrous dysplasia of bone ref and growths or lesion s in one or more bones of the human body. These lesions are tumor like growths that consist of replacement of the m ...   more details



  1. Platybasia

    Infobox Disease Name Platybasia Image Caption Clinical features it occurs as an isolated congenital anomaly or in conjunction with skeletal dysplasia such as achondroplasia, osteogenosis imperfecta or secondary to Paget s or bone softening disorders. impingement over neural and vascular structures may appear in 3 4 th decade. Radiological findings increase in skull base angle 152 degrees martin basilar angle DiseasesDB ICD10 ICD10 Q 75 8 q 65 ICD9 ICD9 756.0 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D010985 Platybasia is a spinal disease of a malformed relationship between the occipital bone and cervical spine . It may be caused by Paget s disease . External links GPnotebook 1811546100 cite journal author Pearce JM title Platybasia and basilar invagination journal Eur. Neurol. volume 58 issue 1 pages 62 4 year 2007 pmid 17483591 doi 10.1159 000102172 Congenital malformations and deformations of musculoskeletal system Category Congenital disorders of musculoskeletal system pl P askopodstawie disease stub Platybasia is also a feature of Gorlin Goltz syndrome, commonly known as Basal cell nevus syndrome. ...   more details



  1. Pseudoachondroplasia

    Refimprove date January 2008 Infobox Disease Name Pseudoachondroplasia Image Caption DiseasesDB 32766 ICD10 Q77.3 ICD9 ICD9 756.4 ICDO OMIM 177170 MedlinePlus eMedicineSubj eMedicineTopic MeshID Pseudoachondroplasia is a type of short limb dwarfism . It is a genetic autosomal dominant disorder. It is generally not discovered until 2 3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a delay in crawling, walking, or a curious, waddling gait. Presentation As the growth rate slows, lumbar lordosis and rhizomelic shortening of the limbs becomes apparent. Most pseudoachondroplasiacs are 80 130 centimeters 31 51 inches in height. Knee deformities bow leggedness, knock knees are also common. Joint hypermobility at the wrist and fingers can be seen, although mobility at the elbow is slightly impaired. Osteoarthritis is a common characteristic of pseudoachondroplasiacs. Genetics The gene for pseudoachondroplasia was located, and is called cartilage oligomeric matrix protein COMP . See also Achondroplasia Dwarfism External links http www.hopkinsmedicine.org greenbergcenter pseudoac.htm Clinical summary at hopkinsmedicine.org http www.nemours.org internet?url no dysplasia pseudoachondroplasia.html Skeletal Dysplasia at nemours.org GeneTests psach disease stub Scleroprotein disease Category Scleroprotein and ECM diseases de Pseudoachondroplasie it Pseudoacondroplasia ...   more details



  1. Fibroblast growth factor receptor 3

    FGFR3 fibroblast growth factor receptor 3 achondroplasia, thanatophoric dwarfism url http www.ncbi.nlm.nih.gov ... Defects in the FGFR3 gene has been associated with several conditions, including achondroplasia hypochondroplasia ... findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due ... Horton WA, Lunstrum GP title Fibroblast growth factor receptor 3 mutations in achondroplasia and related ... http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part achondroplasia GeneReviews NIH NCBI UW entry on Achondroplasia http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part hypochondroplasia ...   more details



  1. Crouzonodermoskeletal syndrome

    Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis ... growth factor receptor 3 disorders the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis ...   more details



  1. Epiphyseal plate

    is achondroplasia , where there is a defect in cartilage formation. Achondroplasia is the most common ...   more details



  1. Dwarfism

    in dwarfs, but intelligence and lifespan are usually normal. Achondroplasia is a bone growth disorder responsible for 70 of dwarfism cases. ref name urlMedlinePlus Dwarfism With achondroplasia ... Examples include achondroplasia , osseous dysplasia , chondrodystrophy , and osteochondrodystrophy ... large or small compared to the rest of the body. In achondroplasia one s trunk is of average size ... syndrome. In most cases of skeletal dysplasia, such as achondroplasia, mental function is not impaired ... RE, Gooding HC, Biesecker BB title Living with achondroplasia in an average sized world an assessment ... medical conditions, each with its own separate symptoms and causes. Two disorders, achondroplasia ... title Dwarfism work accessdate 2009 02 22 ref Achondroplasia Further Achondroplasia The most recognizable and most common form of dwarfism is achondroplasia , which accounts for 70 of dwarfism .... Achondroplasia is an autosomal dominant disorder caused by the presence of a faulty allele in a person s genome. If a pair of achondroplasia alleles are present, the result is fatal. Achondroplasia ... is an inhibitor that regulates bone growth. In cases of achondroplasia, the FGFR3 gene is too ... web url http ghr.nlm.nih.gov condition achondroplasia title Achondroplasia Genetics Home Reference ... condition achondroplasia has historically been ambiguous, and has developed euphemistically ...   more details



  1. ACH

    ACH is a three letter acronym that may refer to In American banking Automated Clearing House , an electronic banking network often used for direct deposit and electronic bill payment A business or organization Aluminum Corporation of China Limited ACH Food Companies, Inc. , American subsidiary of Associated British Foods Automotive Components Holdings , LLC, a Ford managed temporary company mandated to dispose of unprofitable operations of Visteon, its former parts division Alberta Children s Hospital , Calgary, Alberta Arkansas Children s Hospital , Little Rock, Arkansas AC Horsens , a Danish football club American College of Heraldry , an American heraldic organization Accion contra el Hambre, an NGO, part of the Action Against Hunger International Network In biology , chemistry , and medicine Acetylcholine ACh , a neurotransmitter Adrenocortical hormone Achondroplasia , a genetic disorder that is a common cause of dwarfism Aluminium chlorohydrate , an aluminium inorganic polymer used as a flocculant for water purification Acetone cyanohydrin , a highly toxic organic compound In transportation Achnashellach railway station the National Railway code in the United Kingdom Altenrhein Airport , Switzerland, IATA airport code Adelaide Crafers Highway Angeles Crest Highway In linguistics Acholi language ach , ISO 639 code In investigation Analysis of Competing Hypotheses , an investigation methodology In the United States military Advanced Combat Helmet, or MICH TC 2000 Combat Helmet , worn by army soldiers In heating, ventilation, and air conditioning Air changes per hour , a unit in ventilation Ach may refer to the rivers in Germany and Austria Bregenzer Ach , a tributary of Lake Constance Dornbirner Ach , a tributary of Lake Constance Friedberger Ach , a tributary of the Lech disambig de Ach eo ACH fa ACH fr ACH it ACH ru ...   more details



  1. Helen Wellington-Lloyd

    BLP IMDB refimprove only yes date August 2009 Helen Wellington Lloyd , also called Helen of Troy , is an actress originally from South Africa . She was born on January 1, 1954 with a condition called Achondroplasia , which causes dwarfism. She is most famous for being a follower of punk music punk band The Sex Pistols in the late 1970s , attending most of their shows until their breakup. She was also one time lover and later prot g of Malcolm McLaren . It is said Who date August 2009 that she created the first Sex Pistols blackmail logo for early gig posters on the floor of her apartment. She appeared in Derek Jarman s film Jubilee 1977 film Jubilee 1977 and The Great Rock n Roll Swindle , by Julien Temple 1980 . Little is known of her whereabouts since the release of The Swindle , except that on 20 September 2001 Helen auctioned her extensive collection of Sex Pistols memorabilia at Sotheby s in West Kensington , London . Filmography Jubilee 1977 Punk Can Take It 1979 The Tempest 1979 The Great Rock n Roll Swindle as Helen of Troy 1980 External links IMDB name id 0920028 name Helen Wellington Lloyd Persondata Metadata see Wikipedia Persondata . NAME Wellington Lloyd, Helen ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH 1954 PLACE OF BIRTH DATE OF DEATH PLACE OF DEATH DEFAULTSORT Wellington Lloyd, Helen Category 1954 births Category Living people UK film bio stub ...   more details



  1. Alan Eggleston

    Infobox Politician name Alan Eggleston honorific suffix image Alan Eggleston.JPG caption Alan Eggleston in his office in south Perth June 2006 small image office Senator for Western Australia term start 1 July 1996 term end predecessor successor constituency majority birth date Birth date and age 1941 12 30 df y birth place Busselton, Western Australia death date death place nationality Australian flagicon Australia party Liberal Party of Australia spouse relations children residence alma mater University of Western Australia and Murdoch University occupation profession Medical doctor signature website http www.senatoralaneggleston.com SenatorAlanEggleston.com footnotes Dr Alan Eggleston born 30 December 1941 , Australia n politician, has been a Liberal Party of Australia Liberal member of the Australian Senate since July 1996, representing Western Australia . He was born in Busselton, Western Australia , and was educated at the University of Western Australia , where he studied medicine, and at Murdoch University , where he graduated in arts. He was a medical practitioner in Port Hedland, Western Australia 1974 96. Eggleston suffers from achondroplasia . Eggleston was a Councillor in Port Hedland 1988 96 and Mayor 1993 1996. He was a member of the Pilbara Development Commission 1994 96. External links http www.senatoralaneggleston.com SenatorAlanEggleston.com Australian Senators Persondata Metadata see Wikipedia Persondata . NAME Eggleston, Alan ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH 30 December 1941 PLACE OF BIRTH Busselton, Western Australia DATE OF DEATH PLACE OF DEATH DEFAULTSORT Eggleston, Alan Category 1941 births Category Living people Category Liberal Party of Australia politicians Category Members of the Australian Senate for Western Australia Category People with dwarfism Australia Liberal politician stub ...   more details



  1. Ricardo Galeazzi

    Professor Ricardo Galeazzi 1866 &ndash 1952 was an Italy Italian Orthopedic surgery orthopaedic surgeon remembered for describing the Galeazzi fracture . ref name emed http emedicine.medscape.com article 1239331 overview Galeazzi fracture at eMedicine ref He was director of the orthopaedic clinic at the University of Milan for thirty five years. He was known for his work on congenital Dislocation of hip hip dislocation , scoliosis , skeletal tuberculosis and Osteochondrosis juvenile osteochondritis , and contributed to the pathological understanding of osteitis fibrosa cystica and achondroplasia . He described the fracture that bears his name in 1934, publishing his experience of 18 cases, although the injury pattern had been described previously by Astley Cooper Sir Astley Cooper in 1842. ref name emed He also directed the Archivio di Ortopedia , the oldest journal devoted to orthopaedic surgery, for thirty five years. ref cite journal last Scaglietti first O author authorlink coauthors date year 1953 month Nov day title Ricardo Galeazzi, 1866 1952 trans title journal J Bone Joint Surg Br volume 35 B series issue 4 page pages 679 80 publisher location issn pmid 13108934 pmc doi bibcode oclc id url http www.jbjs.org.uk cgi reprint 35 B 4 679 language format accessdate 2009 09 20 laysummary laysource laydate quote ref References reflist Persondata NAME Galeazzi, Ricardo ALTERNATIVE NAMES SHORT DESCRIPTION Italy Italian Orthopedic surgery orthopaedic surgeon DATE OF BIRTH 1866 PLACE OF BIRTH DATE OF DEATH 1952 PLACE OF DEATH DEFAULTSORT Galeazzi, Ricardo Category 1866 births Category 1952 deaths Category Italian surgeons italy med bio stub ...   more details



  1. Zoltan Vajo

    the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis ...   more details



  1. List of people with dwarfism

    who is believed to have had achondroplasia . ref http books.google.com books?hl en&lr &id iYXel4RXuU8C ... Genetics ref Eric Cullen July 12, 1965&ndash August 16, 1996 , Scottish actor with achondroplasia ... 12 MO302707.DTL&type printable San Francisco Chronicle ref who starred in The Station Agent . Achondroplasia ... of Highbeam ref Alan Eggleston born December 30, 1941 , Australian politician with achondroplasia ... 27966§ion oid 24957&year 2003 San Francisco Weekly ref Achondroplasia Charla Faddoul , American ... News This source deals with all three dwarfs in the Roloff family. ref Achondroplasia Matthew Roloff ... William Shakespeare, 3rd Baronet. A geneticist with achondroplasia. ref http www.bbc.co.uk ouch columnists ..., William Geoffrey Shakespeare , also had achondroplasia. Felix Silla born on January 11, 1937 , American ... in Star Wars, Return of the Jedi, Under the Rainbow, Van Halen music video Pretty Woman . Achondroplasia ...   more details



  1. Eric Cullen

    Multiple issues expert September 2010 unreferenced December 2008 Infobox person name Eric Cullen birthname Eric Robertson Cullen image caption birth date Birth date 1965 07 12 df y birth place Scotland death date death date and age 1996 08 16 1965 07 12 df y death place East Kilbride , Glasgow , Scotland Eric Robertson Cullen 12 July 1965 16 August 1996 was a Scotland Scottish actor who was famous for his role as Wee Burney in BBC s Rab C Nesbitt . He was born with achondroplasia a type of dwarfism. Early life He was born to a single mother and was adopted by a family from Hamilton, South Lanarkshire Hamilton . He was diagnosed with achondroplasia at the age of seven. He was known as Noj to his friends Acting career Cullen began acting at school. He started to find roles appearing in several theatre groups before appearing in several 1980s Scottish TV programmes, particularly A Kick Up the Eighties . Cullen eventually found lasting fame playing the youngest son, Wee Burney, in the first three seasons of Rab C. Nesbitt . However he left the series, due to personal problems, in December 1993. Victim of Abuse Cullen was sexual abuse sexually abused by a violent paedophile ring as a teenager, and since his condition meant that he looked much younger than he was, this abuse continued into his twenties. Once he became a successful actor, his abusers returned to extort money with menaces. As a result he developed severe clinical depression . Arrest When he was arrested in 1993 for possession of child pornography the media outcry following his arrest effectively ended his acting career. Although the prosecution accepted that Cullen was storing the material under the duress of his abusers, he was nevertheless sent to prison, although he was released after fifteen days pending his subsequent successful appeal against sentence. Child campaigner Although many Scottish newspapers assumed that Cullen was a paedophile himself, and in fact continued to hound him throughout his life ...   more details



  1. Chondropathy

    Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 ICD10 M 91 m 91 ICD10 M 94 m 91 ICD9 ICD9 732 ICD9 733 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D002357 In medicine , Chondropathy refers to a disease of the cartilage . It is frequently divided into 5 grades, with 0 2 defined as normal, and 3 4 defined as diseased. Cartilage diseases Some common diseases affecting involving the cartilage are listed below. Osteoarthritis The cartilage covering bones articular cartilage is thinned, eventually completely worn out, resulting in a bone against bone joint, resulting in pain and reduced mobility. Osteoarthritis is very common, affects the joints exposed to high stress and is therefore considered the result of wear and tear rather than a true disease. It is treated by Arthroplasty , the replacement of the joint by a synthetic joint made of titanium and teflon. Chondroitin sulfate , a monomer of the polysaccharide portion of proteoglycan , has been shown to reduce the symptoms of osteoarthritis , possibly by increasing the Biosynthesis synthesis of the extracellular matrix. Achondroplasia Reduced proliferation of chondrocytes in the epiphyseal plate of long bones during infancy and childhood, resulting in dwarfism. Costochondritis Inflammation of cartilage in the ribs, causing chest pain. Spinal disc herniation Asymmetrical compression of an intervertebral disc ruptures the sac like disc, causing a herniation of its soft content. The hernia compresses the adjacent nerves and causes back pain. Relapsing polychondritis a destruction, probably autoimmune, of cartilage, especially of the nose and ears, causing disfiguration. Death occurs by suffocation as the larynx loses its rigidity and collapses. Cartilage tumors Repairing articular cartilage damage Though articular cartilage damage is not life threatening, it does strongly affect the quality of life. Articular cartilage damage is often the cause of severe pain, swellings, strong barries to mobilit ...   more details



  1. Tom Shakespeare

    Sir Thomas William Shakespeare, 3rd Baronet born 11 May 1966 , better known as Tom Shakespeare , is a genetics geneticist and sociology sociologist . He has achondroplasia . Shakespeare was educated at Radley College Radley and Pembroke College, Cambridge , and gained a Master of Philosophy MPhil degree from King s College, Cambridge in 1991. Whilst a student, he featured in a television documentary about his restricted growth, along with his father, Sir William Geoffrey Shakespeare, a prominent medical practitioner. Shakespeare then lectured in sociology at the University of Sunderland from 1993 and returned to King s College in 1995 to receive his Doctor of Philosophy PhD degree. His father died in 1996 and Shakespeare inherited his baronetcy, but does not use the title. He is also a campaigner for disability rights , a writer on disability , genetics and bio ethics and was the co author of The Sexual Politics of Disability 1996 ISBN 0 304 33329 8 . He studied political science at Cambridge University. As a radical student, he supported liberation movements such as feminism, anti racism and lesbian and gay rights. During his M Phil, he wrote a book about the politics of disability. He also authored the book Disability Rights and Wrongs published by Routledge in 2006 and co authored Edited Arguing About Disability published in 2009 by Routledge. He was formerly a research fellow at Newcastle University . He currently works for the World Health Organization , in Geneva. Shakespeare is a member of the Religious Society of Friends Religious Society of Friends Quakers . ref http www.sofn.org.uk conf2009 docs flier2009.pdf Science and Religion Making Meaning , Conference of Sea of Faith Network UK , July 2009 ref References references External links http www.ncl.ac.uk peals people profile t.w.shakespeare Profile at PEAL start box s reg uk bt succession box title Shakespeare Baronets Baronet br of Lakenham before William Geoffrey Shakespeare after current incumbent years ...   more details



  1. Brad Williams (comedian)

    BLP unsourced date August 2009 Infobox person name Brad Williams birthname Brad Williams birth date Birth date and age 1984 01 13 birth place Orange , California death date death place website http www.bradwilliamscomedy.com Brad Williams born 1984 in Orange, California is a comedian and actor. He regularly appeared on the show Mind of Mencia . Williams was born with Achondroplasia , a type of dwarfism . His condition plays a large part in the bits in both his stand up comedy and television roles. He was a student at Sunny Hills High School in Fullerton, California and after graduation, he attended the University of Southern California but dropped out to pursue his acting and comedy career. Williams got his start by attending a Carlos Mencia live comedy show. While he was in the crowd Mencia made jokes about dwarfs. The people sitting close to Williams were scared to laugh. Mencia noticed this, then noticed Williams and he asked Brad to join him on stage. Brad cracked a few jokes and impressed Mencia. Mencia then asked Williams to try stand up and be his opening act on the road. Brad has been Mencia s opening act ever since, opening up shows on both the Mind of Mencia tour and the popular Punisher Tour. Brad s memorable roles on the Mind of Mencia include playing a dwarf whore whorf , the leader of an all dwarf basketball team, joining Mencia at a Renaissance faire, and giving a speech about his hatred of podiums. Brad is frequently confused with Jason Acu a Wee Man from Jackass TV series Jackass because of their similar appearance. For St. Patrick s Day 2008, Brad, dressed as a leprechaun, made an appearance on the Tonight Show with Jay Leno . For Halloween 2008, Brad dressed up as Chucky for a skit on Jimmy Kimmel Live On July 31, 2010, Brad appeared in an episode of Pit Boss on Animal Planet, called Surprise Surprise . Persondata Metadata see Wikipedia Persondata . NAME Williams, Brad ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH 1984 PLACE OF BIRTH DATE OF D ...   more details



  1. Munchkin (cat)

    based on a genetic disease , achondroplasia . ref name FIF http web.archive.org web 20071226123710 ... the genetic mutation causing the short legged trait in munchkin cats is often referred to as achondroplasia ... locus as causing achondroplasia in humans. Furthermore, while achondroplasia is typically associated ... Fold , a variety of cat with a gene causing osteochondrodysplasia rather than achondroplasia . References ...   more details




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