FETAL ALCOHOL SYNDROME

At least half of Canadian and American women drink socially (1) and half of all pregnancies are unplanned (2); thus, an estimated quarter of all newborns (about 100 000 infants a year in Canada) are exposed to some alcohol during early gestation.

During the late 1970s and 1980s, it became apparent that this classic triad of symptoms (intrauterine and postnatal growth retardation (below the third percentile); specific facial changes (short palpebral fissures [2 standard deviations below normal for age], smooth philtrum and thin vermilion border of the upper lip); and adverse brain effects (mainly mental retardation(3,4) was relatively uncommon in the offspring of heavy drinkers (occurring in only 4%–5%) (5). More often (in 30%–40% of children of heavy drinkers), the brain injury manifests as mild rather than severe cognitive dysfunction and a more subtle and complex pattern of neurobehavioural problems) with or without physical features of classic FAS.

The broader term "fetal alcohol spectrum disorder" (FASD) has been coined in recent years to encompass the wide range of adverse fetal effects of ethanol — from the classic FAS to its more partial presentations. Overall, it is estimated that FASD affects up to 9.1 of every 1000 babies born in the United States and Canada (6,7).

The effect of alcohol exposure on the developing fetus is extremely variable. Fetuses exposed to high levels of alcohol have varying malformations divided by some workers into major and minor criteria (a checklist of 60 minor criteria that have been described) (1).

In addition to growth retardation and central nervous system dysfunction, two of the three craniofacial signs should be present:

1. Microcephaly.
2. Microphthalmia ± a short palpebral fissure.
3. Hypoplastic philtrum with a thin upper lip and maxillary flattening.

• Limb.
• Small distal phalanges (± hypoplastic fifth fingernail).
• Abnormal palmar crease (deep extra line running across the palm from the ulna side towards the space between the middle and index fingers).
• Punctate calcification of the epiphyses.
• Cardiac (occurs in about one third of cases).
• Joint abnormalities (abnormal position or function).
• Tetralogy of Fallot.
• ASD.
• Other less common anomalies include:
• Cleft lip ± cleft palate.
• Mild webbing of the neck or short neck.
• Cervical vertebral anomalies.
• Strawberry hemangiomata.
• Hypoplastic labia majora.
• Agenesis of the Corpus Callosum.

REFERENCES

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