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60 results
  1. ... and neuronal migration abnormalities may be suggestive of Aicardi syndrome, no findings are diagnostic. Diagnosis No consensus clinical diagnostic criteria for Aicardi syndrome ...
  2. ... your health care provider if your child has symptoms of Aicardi syndrome. Seek emergency care if the infant is having ...
  3. ... interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutieres syndrome. Fetal Diagn Ther. 2006; 21 :153–5. [ PubMed : ... P, Buenerd A, Escalon J, Gaucherand P. Prenatal diagnosis of Aicardi-Goutieres syndrome. Prenat Diagn. 2005; 25 :28–30. [ PubMed : 15662687 ] ...
  4. ... lacunae, infantile spasms) are needed to make the diagnosis of Aicardi syndrome; these features are rarely found associated with microphthalmia in MLS syndrome. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  5. ... text-role >description</text-role><html ><html:p >Aicardi-Goutières syndrome is a disorder with variable signs and symptoms, but it primarily affects the brain, the immune ...
  6. ... ancestry and represents an ancient founder variant (see Aicardi-Goutières Syndrome ). Management No clinical practice guidelines for GM3 synthase deficiency have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  7. Brain malformations is damage or abnormal development of the brain and nervous system. Starts long before a baby is born. Learn types and treatments. ... Most ...
  8. ... Aicardi syndrome [ 8 ] For more information, see the Aicardi syndrome section. ... [ 14 ] Symptoms vary by individual disorder. Low-birth-weight infants [ ...
  9. ... recessive; MOI = mode of inheritance 1. ADAR -related Aicardi-Goutières syndrome can ... Following Initial Diagnosis To establish the extent of disease and needs ...
  10. ... syndromes or conditions are risk factors for hepatoblastoma: Aicardi ... may have tests done to check for cancer before any symptoms appear. Every 3 months from birth (or diagnosis ...
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