Seminars in Pediatric Neurology
Volume 14, Issue 3 , Pages 128-135, September 2007

Macrocephaly Syndromes

  • Ann Haskins Olney, MD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Ann Haskins Olney, MD, Munroe-Meyer Institute for Genetics and Rehabilitation, 985440 Nebraska Medical Center, Omaha, NE 68198-5440.

Munroe-Meyer Institute for Genetics and Rehabilitation; University of Nebraska Medical Center, Omaha, NE.

Anatomic megalencephaly resulting in macrocephaly occurs in more than 100 multiple congenital anomaly syndromes. A number of macrocephaly syndromes show accompanying somatic overgrowth, but some show normal somatic growth. This discussion provides a review of several macrocephaly syndromes that might be encountered by the pediatric neurologist. Growth patterns, craniofacial features, congenital anomalies, central nervous system imaging findings, performance, and mode of inheritance for each condition are reviewed as well as recent developments in the molecular genetic testing for these conditions.

Keywords: macrocephaly, megalancephaly, overgrowth, syndrome

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PII: S1071-9091(07)00050-2

doi:10.1016/j.spen.2007.07.004

Seminars in Pediatric Neurology
Volume 14, Issue 3 , Pages 128-135, September 2007

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