Macrocephaly syndromes.
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.
Olney
Ann Haskins
AH
Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE 68198-5440, USA. aolney@unmc.edu
D001927:Brain Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans