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  1. ... or unilateral testis); retarded growth. dysmorphic features of Williams' syndrome Microcephaly (30%); typical facies: short upturned nose, flat ... asymptomatic. Alagille syndrome About 85% have peripheral PS. Williams syndrome About 50% have significant cardiac lesion, including severe ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  2. ... testing: 15q11-12 deletion EEG: abnormal with epilepsy William syndrome History Exam 1st investigation Other investigations developmental delay ... testing: 15q11-12 deletion EEG: abnormal with epilepsy William syndrome History Exam 1st investigation Other investigations developmental delay ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  3. ... tests; diagnosis is based on history and examination. Williams syndrome SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Wide mouth with ... 5th ed. Sydney, NSW: WB Saunders; 1997. [64] Williams Syndrome Association. What is Williams syndrome? http://www.williams- ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  4. ... testing: 15q11-12 deletion EEG: abnormal with epilepsy William's syndrome History Exam 1st investigation Other investigations developmental delay ... testing: 15q11-12 deletion EEG: abnormal with epilepsy William's syndrome History Exam 1st investigation Other investigations developmental delay ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  5. ... in the Ras/MAPK pathway. Neurofibromatosis type 1 Williams' syndrome SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Supravalvular aortic stenosis; ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  6. ... behavior, language impairment, and behavioral problems. [ 25] [ 26] Williams syndrome • Caused by a chromosome 7q11.23 deletion. 6 ... wide mouth, and full lips are seen in William syndrome. • Cleft palate, micrognathia, low-set ears, and facial ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  7. ... tests; diagnosis is based on history and examination. Williams syndrome • Wide mouth with full lips, stellate pattern of ... 5th ed. Sydney, NSW: WB Saunders; 1997. 64. Williams Syndrome Association. What is Williams syndrome? http://www.williams- ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  8. ... dysmorphic features of LEOPARD syndrome dysmorphic features of Williams' syndrome dysmorphic features of Alagille's syndrome failure to ... black ethnicity Noonan syndrome LEOPARD syndrome Alagille syndrome Williams ... rubella syndrome carcinoid syndrome infectious endocarditis myocardial ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  9. ... 5th ed. Sydney, NSW: WB Saunders; 1997. 64. Williams Syndrome Association. What is Williams syndrome? http://www.williams-syndrome.org/what-is-williams- ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  10. ... usually cryptorchidism or unilateral testis), and retarded growth. • Williams syndrome: features include microcephaly (30%); typical facies of short ... asymptomatic. Alagille syndrome • About 85% have peripheral PS. Williams syndrome • About 50% have significant cardiac lesion, including severe ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
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