Genetic disorders associated with macrocephaly

  title={Genetic disorders associated with macrocephaly},
  author={C. Williams and A. Dagli and A. Battaglia},
  journal={American Journal of Medical Genetics Part A},
  • C. Williams, A. Dagli, A. Battaglia
  • Published 2008
  • Medicine
  • American Journal of Medical Genetics Part A
  • Macrocephaly is associated with many genetic disorders and is a frequent cause of referral to the clinical geneticist. In this review we classify the commonly encountered macrocephaly disorders into useful categories and summarize recent genetic advances. Conditions where macrocephaly is a predominant aspect of the clinical presentation are discussed and a diagnostic approach to the common macrocephaly disorders is provided. Some emphasis is placed on familial macrocephaly (sometimes referred… CONTINUE READING
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