Objective: To expand the phenotype of toluene embryopathy.
Method: Review of case records of 35 deliveries with antenatal exposure to toluene. Six children were examined and their features are compared with previously 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%). Birth weight, length, and head circumference and gestational length were significantly less than a control group closely matched for gender, race, and socioeconomic status. Follow-up pediatric evaluation revealed growth retardation (46% < 5th percentile for weight, 38% < 5th percentile for height), microcephaly (46%), and developmental delays (38%). Maternal toluene abuse of 4 or more years was positively correlated with weight < 5th percentile and microcephaly in childhood. The six children examined demonstrated many previously described features of toluene 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 examined had antepartum exposure to alcohol as well as toluene.
Conclusion: In utero exposure to toluene seems to be associated with teratogenicity in the developing fetus. A preliminary picture of toluene embryopathy is now emerging.