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Williams Syndrome

Discussion in 'Pediatrics' started by Bug, Oct 21, 2011.

  1. Bug

    Bug Well-Known Member

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    Has anyone come across a patient with this and if so, did you note any unilateral differences in either tone or foot structure of the foot or legs.

    I have a 13 year old in at the moment with the above and I am finding there is very limited information about the neuromuscular impact other than hyper or hypotonia may be present. As it is so rare, I have not gained the parents permission to post more information than this at the moment as it is potentially identifiable but if anyone has any pearls that would be appreciated.
  2. Admin2

    Admin2 Administrator Staff Member

    Williams syndrome

    Williams syndrome (WS) is a genetic disorder that affects many parts of the body.[3] Facial features frequently include a broad forehead, short nose and full cheeks, an appearance that has been described as "elfin".[3][5] Mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing and fewer problems with language are typical.[3] Those affected often have an outgoing personality and interact readily with strangers.[3][5] Problems with teeth, heart problems, especially supravalvular aortic stenosis, and periods of high blood calcium are common.[2][3]

    Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s.[3][5] Typically this occurs as a random event during the formation of the egg or sperm from which a person develops.[3] In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner.[3] The different characteristic features have been linked to the loss of specific genes.[3] The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.[2]

    Treatment includes special education programs and various types of therapy.[2] Surgery may be done to correct heart problems.[2] Dietary changes or medications may be required for high blood calcium.[2] The syndrome was first described in 1961 by New Zealander John C. P. Williams.[6][7] Williams syndrome affects between 1 in 7,500 to 1 in 20,000 people at birth.[5] Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease.[4]

    1. ^ Nikitina, EA; Medvedeva, AV; Zakharov, GA; Savvateeva-Popova, EV (January 2014). "Williams syndrome as a model for elucidation of the pathway genes - the brain - cognitive functions: genetics and epigenetics". Acta Naturae. 6 (1): 9–22. PMC 3999462. PMID 24772323.
    2. ^ a b c d e f g h i j k Morris, CA; Pagon, RA; Adam, MP; Ardinger, HH; Wallace, SE; Amemiya, A; Bean, LJH; Bird, TD; Ledbetter, N; Mefford, HC; Smith, RJH; Stephens, K (2013). "Williams Syndrome". GeneReviews. PMID 20301427.
    3. ^ a b c d e f g h i j Reference, Genetics Home (December 2014). "Williams syndrome". Genetics Home Reference. Archived from the original on 20 January 2017. Retrieved 22 January 2017. This article incorporates text from this source, which is in the public domain.
    4. ^ a b Riccio, Cynthia A.; Sullivan, Jeremy R.; Cohen, Morris J. (2010). Neuropsychological Assessment and Intervention for Childhood and Adolescent Disorders. John Wiley & Sons. p. 400. ISBN 9780470570333.
    5. ^ a b c d e Martens, Marilee A.; Wilson, Sarah J.; Reutens, David C. (2008). "Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype". Journal of Child Psychology and Psychiatry. 49 (6): 576–608. doi:10.1111/j.1469-7610.2008.01887.x. PMID 18489677.
    6. ^ Lenhoff, Howard M.; Teele, Rita L.; Clarkson, Patricia M.; Berdon, Walter E. (2010). "John C. P. Williams of Williams-Beuren syndrome". Pediatric Radiology. 41 (2): 267–9. doi:10.1007/s00247-010-1909-y. PMID 21107555.
    7. ^ Dobbs, David (2007-07-08). "The Gregarious Brain". New York Times. Archived from the original on 2008-12-11. Retrieved 2007-09-25.

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