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Oxycephaly-systematic review, case presentation, and diagnostic clarification.

Matthew E Pontell1, Carlos E Barrero1, Connor S Wagner1

  • 1Division of Plastic, Reconstructive and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|July 26, 2023
PubMed
Summary
This summary is machine-generated.

Oxycephaly, a rare craniosynostosis, often presents subtly with late-onset suture fusion. This study clarifies its diagnosis and management, highlighting symptomatic intracranial pressure elevation.

Keywords:
CraniostenosisCraniosynostosisNon-syndromicOxycephalyProgressive postnatal pansynostosis

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Area of Science:

  • Neurosurgery
  • Craniofacial Surgery
  • Pediatric Neurosurgery

Background:

  • Oxycephaly is a distinct phenotype of multi-suture craniosynostosis.
  • It is frequently misdiagnosed due to ambiguous diagnostic criteria and a mild presentation.
  • Understanding its unique characteristics is crucial for timely intervention.

Purpose of the Study:

  • To review existing literature on oxycephaly.
  • To clarify diagnostic criteria for this rare condition.
  • To propose an alternative management strategy.

Main Methods:

  • Literature review of oxycephaly from 1997 to 2022.
  • Retrospective review of cases at a single institution.
  • Analysis of clinical presentation and treatment outcomes.

Main Results:

  • Few studies specifically defined oxycephaly; literature review yielded limited relevant cases.
  • Two institutional cases met established diagnostic criteria for oxycephaly.
  • Both patients exhibited speech delays, retinal nerve fiber layer thickening, and inner table scalloping, alongside the characteristic phenotype.
  • One patient had elevated intracranial pressure (ICP), and the other had a Chiari I malformation.
  • Both were treated with posterior vault distraction osteogenesis (PVDO).

Conclusions:

  • Oxycephaly involves late-onset multi-suture fusion, patent sutures at birth, and specific craniofacial features.
  • Absence of midface hypoplasia and syndromic associations distinguishes it.
  • Over 60% of patients experience symptomatic ICP elevation, potentially leading to vision loss.
  • This virulent condition is often missed due to diagnostic ambiguity and subtle phenotype.