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Apert's syndrome

A Hanieh1, D J David

  • 1Department of Neurosurgery, Adelaide Children's Hospital, Australia.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|August 1, 1993
PubMed
Summary
This summary is machine-generated.

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Apert syndrome commonly presents with mild ventricular dilatation but not increased intracranial pressure. Craniofacial surgery did not significantly alter ventricular size in Apert syndrome patients.

Area of Science:

  • Craniofacial Surgery
  • Pediatric Neurosurgery
  • Medical Genetics

Background:

  • Apert syndrome is a rare genetic disorder characterized by craniosynostosis and midface hypoplasia.
  • Ventricular dilatation is a known neurological feature in some Apert syndrome cases.
  • Understanding the impact of surgical interventions on intracranial dynamics is crucial.

Purpose of the Study:

  • To analyze the prevalence and characteristics of ventricular dilatation in Apert syndrome.
  • To evaluate the effect of transcranial corrective procedures on ventricular size.
  • To describe unusual presentations within a cohort of Apert syndrome patients.

Main Methods:

  • Retrospective review of 33 Apert syndrome cases treated at the Australian Craniofacial Unit.

Related Experiment Videos

  • Clinical assessment of neurological features, including ventricular size via imaging.
  • Analysis of ventricular dimensions before and after transcranial corrective procedures.

    • Main Results:

    • Mild ventricular dilatation was observed in a significant proportion of Apert syndrome cases, typically without elevated intracranial pressure.
    • Severe ventricular dilatation occurred rarely (one case).
    • Transcranial surgery did not lead to significant changes in ventricular size; brain tissue expansion and subarachnoid space increase compensated for skull volume changes.

    Conclusions:

    • Mild ventricular dilatation is a common, generally benign finding in Apert syndrome.
    • Transcranial corrective procedures for Apert syndrome do not significantly impact ventricular size.
    • Further investigation into the neurodevelopmental outcomes associated with these findings is warranted.