Fetal Alcohol Syndrome

Although the dangers of alcohol during pregnancy had long been suspected, fetal alcohol syndrome (FAS) was formally described in 1968 by P. Lemoine and colleagues from Nantes (France) in 127 children of alcoholic parents. Their report in a French pediatric journal drew little attention. Focus on FAS only came after it was independently redescribed in 1973 by K.L. Jones and colleagues from Seattle (U.S.) in eight children of mothers with chronic alcoholism. Their report in the British medical journal The Lancet triggered an avalanche of reports of FAS.

Alcohol is capable of causing birth defects. This capability classifies it medically as a teratogen. Alcohol is now recognized as the leading teratogen to which the fetus is likely to be exposed. This applies only to societies in which alcoholic beverages are consumed. In these populations, prenatal alcohol exposure is thought to be the most common cause of mental retardation. In fact, according to research published in Pediatrics, alcohol use among women of childbearing age (18-44 years) "constitutes a leading, preventable cause of birth defects and developmental disabilities in the U.S."

Most of the features of FAS are variable. They may or may not be present in a given child. However, the most common and consistent features of FAS involve the growth, performance, intelligence, head and face, skeleton, and heart of the child.

Growth is diminished. Birth weight is lessened. Retardation of longitudinal growth is evident on the measurements of length in infancy and of standing height later in childhood. The growth lag is permanent.

Performance is impaired. The FAS infant is irritable. The older FAS child is hyperactive. Fine motor skills are impaired with weak grasp, poor hand-eye coordination, and tremors.

Intelligence is diminished. The average IQ is in the 60s. (This level is considered mild mental retardation and qualifies a child in the U.S. as educable mentally retarded.)

The head is small (microcephalic). This decrease may not even be apparent to family and friends. It is evident upon comparison of the child's head circumference to that of a normal child on a growth chart. The usual degree of microcephaly in FAS is classified as mild to moderate. It is primarily due to failure of brain growth. The consequences are neither mild nor moderate.

The face is characteristic with short eye openings (palpebral fissures), sunken nasal bridge, short nose, flattening of the cheekbones and midface, smoothing and elongation of the ridged area (the philtrum) between the nose and lips, and smooth, thin upper lip.

The skeleton shows characteristic changes; abnormal position and function of joints, shortening of the metacarpal bones leading to the fourth and fifth fingers, and shortening of the last bone (the distal phalanx) in the fingers. There is also a small fifth fingernail and a single transverse (simian) crease across the palm.

A heart murmur is often heard and then may go away. The basis is usually a hole between the right and left sides of the heart between the ventricles (the lower chambers) or less commonly, the atria (the upper chambers).

A number of other birth defects can occur in children with FAS. These include such major birth deformities such as hydrocephalus (increased fluid pressure on the brain that may require shunting to relieve the pressure), cleft lip (sometimes with a cleft palate), coarctation (narrowing) of the aorta, and meningomyelocele (spina bifida).