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Orthopedic manifestations and implications for individuals with Costello syndrome.

Discussion in 'General Issues and Discussion Forum' started by NewsBot, Jul 4, 2013.

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  1. NewsBot

    NewsBot The Admin that posts the news.

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    Orthopedic manifestations and implications for individuals with Costello syndrome.
    Detweiler S, Thacker MM, Hopkins E, Conway L, Gripp KW.
    Am J Med Genet A. 2013 Jun 27.
     
  2. Admin2

    Admin2 Administrator Staff Member

    Costello syndrome

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    Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized by delayed development and delayed mental progression, distinctive facial features, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet.[1]:571 Heart abnormalities are common, including a very fast heartbeat (tachycardia), structural heart defects, and overgrowth of the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be large at birth, but grow more slowly than other children and have difficulty feeding. Later in life, people with this condition have relatively short stature and many have reduced levels of growth hormones. It is a RASopathy.[citation needed]

    Beginning in early childhood, people with Costello syndrome have an increased risk of developing certain cancerous and noncancerous tumors. Small growths called papillomas are the most common noncancerous tumors seen with this condition. They usually develop around the nose and mouth or near the anus. The most frequent cancerous tumor associated with Costello syndrome is a soft tissue tumor called a rhabdomyosarcoma. Other cancers also have been reported in children and adolescents with this disorder, including a tumor that arises in developing nerve cells (neuroblastoma) and a form of bladder cancer (transitional cell carcinoma).

    Costello Syndrome was discovered by Dr Jack Costello, a New Zealand Paediatrician in 1977.[2][3] He is credited with first reporting the syndrome in the Australian Paediatric Journal, Volume 13, No.2 in 1977.[4]

    1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
    2. ^ "Archived copy". Archived from the original on 2010-11-21. Retrieved 2010-12-29. 
    3. ^ "Discovery offers key to children's disease". The New Zealand Herald. 24 October 2003. Retrieved 26 September 2011. 
    4. ^ Costello JM (June 1977). "A new syndrome: mental subnormality and nasal papillomata". Aust Paediatr J. 13 (2): 114–8. PMID 907573. 
     
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