Overview of our approach to the evaluation of microcephaly in infants and children
This algorithm is intended for use in conjunction with the UpToDate topic on microcephaly in children. The baseline evaluation includes history and physical examination with particular attention to:
- History: OFC at birth; prenatal drug, alcohol, or toxin exposure; maternal medical problems (eg, diabetes, phenylketonuria); congenital infection; perinatal insult (eg, hypoglycemia, anoxia); seizures; developmental delay.
- Physical examination: OFC measurement, percentile, and trajectory; dysmorphic features; signs of congenital infection (eg, cataracts, skin lesions, hepatomegaly); neurologic abnormalities.
- Family history: consanguinity; microcephaly.
- Measurement of parents' OFC.
Ancillary testing is directed by clinical findings from the history and examination and may include laboratory studies (eg, genetic tests, metabolic tests) and neuroimaging.