Objective: We compared the prevalence of major and minor anomalies in a con
secutive sample of newborn infants with congenital microcephaly with that a
mong normocephalic infants.
Study design: Head measurements from >19,000 liveborn infants at 1 hospital
during the years 1991 and 1992 were reviewed. Infants whose head circumfer
ence was in the lowest quartile (n = 850) were remeasured by research assis
tants to identify all whose head circumference was 2 SD below the mean for
gestational age; 106 infants with congenital microcephaly were identified.
Infants with microcephaly (n = 65) and 294 infants in a control group were
examined systematically for major malformations and minor physical features
.
Results: Four (6.2%) of the 65 infants examined either had a major malforma
tion or were considered dysmorphic. One of the 4 had a specific multiple ma
lformation syndrome, and 1 dysmorphic infant had a rare metabolic defect. O
verall, the infants with microcephaly did not have a higher frequency of mi
nor anomalies. However, there was a higher frequency of frontal bossing, sm
all chin, and short nose with anteverted nares, which was associated with s
mall body size rather than microcephaly.
Conclusions: Congenital microcephaly is infrequently accompanied by major m
alformations and occurs rarely as part of a recognizable syndrome.