Investigating microcephaly
Open Access
- 28 June 2013
- journal article
- review article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 98 (9), 707-713
- https://doi.org/10.1136/archdischild-2012-302882
Abstract
1. Microcephaly is a clinical finding, not a ‘disease’, and is a crude but trusted assessment of intracranial brain volume. 2. Developmental processes reducing in utero neuron generation present at birth with ‘Primary microcephaly’. 3. ‘Secondary microcephaly’ develops after birth and predominantly reflects dendritic or white matter diseases. 4. Microcephalic conditions have a heterogeneous aetiology, but increasingly genomic tests are available that allow an exact diagnosis.Keywords
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