Neurology Book

Congenital Abnormality

Fetal Alcohol Syndrome

Aka: Fetal Alcohol Syndrome, Fetal Alcohol Effect, Fetal Alcohol Spectrum Disorders
  1. Definition
    1. Fetal Alcohol Syndrome (FAS)
      1. Malformation, growth and Developmental Delay
    2. Fetal Alcohol Effect (FAE)
      1. Only part of FAS signs present
  2. Epidemiology
    1. First described clinically in 1970s
    2. Incidence
      1. Fetal Alcohol Syndrome: 1 in 500 births
      2. Fetal Alcohol Effect: 1 in 300 births
      3. FAS Children born to Alcoholic women: 1 in 10 births
  3. Pathophysiology
    1. Related to Maternal Alcohol intake during pregnancy
      1. No Alcohol amount is considered safe
      2. No time in pregnancy is considered safe
  4. Signs: Facial
    1. Microcephaly
    2. Short Palpebral Fissure length (narrow eye slits)
      1. Distance between inner and outer canthus reduced
    3. Underdevelopment of upper lip
      1. Philtrum (vertical groove between nose and upper lip)
        1. Flat or smooth appearance (normally indented)
      2. Thin vermilion border of upper lip
    4. Epicanthal folds
      1. Skin folds covering medial canthus (corner of eye)
    5. Flat nasal bridge
    6. Nostrils directed forward (upturned nose)
    7. Short nose
    8. Flat Maxillary area or midface
    9. Underdeveloped ear cartilage ("Railroad track ear")
      1. Top curve of outer ear folds over
      2. Appears parallel to fold below it (parallel folds)
  5. Signs: Hand
    1. Clinodactyly of fifth finger (curved toward 4th)
    2. Upper palmar crease with hockey stick appearance
      1. Widens and ends between 2nd and third fingers
  6. Signs: General
    1. Hirsutism
    2. Cardiac defects
    3. Developmental Delay
    4. Mental Retardation
    5. Growth retardation
      1. Birthweight and length less than 5-10th percentile
  7. Management
    1. Referral to multidisciplinary team
    2. Early diagnosis has distinct advantages
      1. Significantly better outcomes with management
      2. Children under age 3 receive broader services
        1. Individuals with Disabilities Education Act, Part C
  8. Associated Conditions
    1. Attention Deficit Disorder
  9. Resources
    1. Fetal Alcohol Syndrome Family Resource Institute
    2. Fetal Alcohol Syndrome Diagnostic, Prevention Network
    3. National Center Birth Defects, Developmental Disability
    4. National Organization on Fetal Alcohol Syndrome
    5. Substance Abuse and Mental Health Services Admin
  10. References
    1. Hoyme (2005) Pediatrics 115:39-47 [PubMed]
    2. Wattendorf (2005) Am Fam Physician 72:279-85 [PubMed]

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