Clinical and Brain Imaging Heterogeneity of Severe Microcephaly

Lina Basel-Vanagaite, William B. Dobyns

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Microcephaly may be present at birth or develop postnatally. Classification according to the genetic cause cannot always predict the severity of the clinical course. The aim of this research was to group a large cohort of patients with primary microcephaly into more discrete subtypes, to optimize assessment of the patients based on their clinical and brain imaging findings. Medical records and brain images were reviewed for 4442 patients with brain malformations diagnosed and treated over 24 years and identified 247 patients classified as having microcephaly with simplified gyri alone or in association with additional brain abnormalities. For each case, clinical records were retrospectively reviewed for consanguinity, positive family history, sex, associated anomalies, and cranial magnetic resonance imaging. A subset (n = 12) of representative patients with the most complete available data was studied in greater detail, to define the most common subtypes and clinical presentations. Overall, four relatively common brain imaging presentations were identified, involving abnormalities in the gyral pattern, extra-axial space, and small size of the brainstem and cerebellum. Classifying patients with microcephaly according to brain imaging findings could enable more accurate counseling of the families with regard to prognosis.

Original languageEnglish (US)
Pages (from-to)7-16
Number of pages10
JournalPediatric Neurology
Issue number1
StatePublished - Jul 2010
Externally publishedYes

Bibliographical note

Funding Information:
Thanks go to Gabrielle J. Halpern, MD, for editing the manuscript. This study was supported by Israeli Ministry of Health Chief Scientist Foundation (grant no. 3-4963 ) and Israeli Science Foundation (grant no. 558/09 , and Margaret Stolz foundation, Tel Aviv University .


Dive into the research topics of 'Clinical and Brain Imaging Heterogeneity of Severe Microcephaly'. Together they form a unique fingerprint.

Cite this