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Macrocephaly syndromes.

Ann Haskins Olney1

  • 1Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE 68198-5440, USA. aolney@unmc.edu

Seminars in Pediatric Neurology
|November 6, 2007
PubMed
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Macrocephaly, a condition of an enlarged head, is linked to over 100 congenital anomaly syndromes. This review covers key features and genetic testing for pediatric neurologists managing these complex cases.

Area of Science:

  • Pediatric Neurology
  • Clinical Genetics
  • Developmental Biology

Background:

  • Anatomic megalencephaly leading to macrocephaly is a feature of over 100 congenital anomaly syndromes.
  • These syndromes present with variable somatic growth patterns, including overgrowth or normal growth.
  • Recognizing these syndromes is crucial for accurate diagnosis and management in pediatric neurology.

Purpose of the Study:

  • To review macrocephaly syndromes relevant to pediatric neurologists.
  • To detail diagnostic features including growth patterns, craniofacial anomalies, and CNS imaging.
  • To discuss recent advancements in molecular genetic testing for these conditions.

Main Methods:

  • Literature review of macrocephaly syndromes.
  • Synthesis of information on clinical presentation, imaging, and genetics.

Related Experiment Videos

  • Focus on conditions encountered in pediatric neurology practice.

    • Main Results:

    • Macrocephaly syndromes exhibit diverse clinical phenotypes.
    • Key differentiating features include somatic growth, specific craniofacial anomalies, and CNS findings.
    • Molecular genetic testing is increasingly important for diagnosis.

    Conclusions:

    • Accurate identification of macrocephaly syndromes requires a comprehensive approach.
    • Understanding growth patterns and genetic underpinnings aids in diagnosis and prognosis.
    • Pediatric neurologists benefit from updated knowledge on diagnostic tools and genetic testing.