Microcephaly Diagnosis: Head Circumference and Beyond
Microcephaly = head circumference >2 SD below mean for age/sex (or <3rd percentile). Measurement: maximal occipitofrontal circumference.
Additional Evaluation
- Head shape (craniosynostosis vs. proportionate).
- Growth trajectory (serial measurements).
- Neurodevelopmental assessment.
- Imaging (cranial US, MRI) for brain structure.
- Genetic testing (chromosomal microarray, exome).
- Metabolic/infectious workup (CMV, Zika, toxoplasmosis).
Early diagnosis enables early intervention and genetic counseling.
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