Fetal Alcohol Syndrome
Medical Author: David Perlstein, MD, FAAP
Medical Editor: William C. Shiel Jr., MD, FACP, FACR
What is 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.
What are the features of fetal alcohol syndrome?
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
eye-hand 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 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).
Next: How is the diagnosis of fetal alcohol syndrome made? »
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