Congenital microcephaly: phenotypic features in a consecutive sample of newborn infants.
OBJECTIVE
We compared the prevalence of major and minor anomalies in a consecutive sample of newborn infants with congenital microcephaly with that among normocephalic infants.


METHODS
Head measurements from >19,000 liveborn infants at 1 hospital during the years 1991 and 1992 were reviewed. Infants whose head circumference was in the lowest quartile (n = 850) were remeasured by research assistants 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 malformation or were considered dysmorphic. One of the 4 had a specific multiple malformation syndrome, and 1 dysmorphic infant had a rare metabolic defect. Overall, the infants with microcephaly did not have a higher frequency of minor anomalies. However, there was a higher frequency of frontal bossing, small chin, and short nose with anteverted nares, which was associated with small body size rather than microcephaly.


CONCLUSIONS
Congenital microcephaly is infrequently accompanied by major malformations and occurs rarely as part of a recognizable syndrome.
Vargas
J E
JE
Division of Genetics and the Neuroepidemiology Unit, Children's Hospital, Boston, USA.
Allred
E N
EN
Leviton
A
A
Holmes
L B
LB
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics; D001900:Boston / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D008499:Medical Records; D008831:Microcephaly / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D015995:Prevalence