Objective. To expand the phenotype of toluene embryopathy. Method. Rev
iew of case records of 35 deliveries with antenatal exposure to toluen
e. Six children were examined and their features are compared with pre
viously reported cases. Results. There were three perinatal deaths. Of
the survivors, review of available data revealed a high incidence of
prematurity (42%), low birth weight (52%), and microcephaly (32%). Bir
th weight, length, and head circumference and gestational length were
significantly less than a control group closely matched for gender, ra
ce, and socioeconomic status. Follow-up pediatric evaluation revealed
growth retardation (46% < 5th percentile for weight, 38% < 5th percent
ile for height), microcephaly (46%), and developmental delays (38%). M
aternal toluene abuse of 4 or more years was positively correlated wit
h weight < 5th percentile and microcephaly in childhood. The six child
ren examined demonstrated many previously described features of toluen
e embryopathy including microcephaly, narrow bifrontal diameter, short
palpebral fissures, hypoplastic midface, wide nasal bridge, abnormal
palmar creases, and blunt fingertips. Only one of the six children exa
mined had antepartum exposure to alcohol as well as toluene. Conclusio
n. In utero exposure to toluene seems to be associated with teratogeni
city in the developing fetus. A preliminary picture of toluene embryop
athy is now emerging.