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Craniofrontonasal dysplasia

D J Orr1, S Slaney, G J Ashworth

  • 1Oxford Craniofacial Unit, Radcliffe Infirmary, UK.

British Journal of Plastic Surgery
|April 1, 1997
PubMed
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Craniofrontonasal dysplasia, often presenting with coronal synostosis and distinctive frizzy hair in females, requires careful surgical management. Early frontal advancement and later hypertelorism correction are key treatment stages.

Area of Science:

  • Craniofacial Surgery
  • Genetics
  • Pediatric Plastic Surgery

Background:

  • Craniofrontonasal dysplasia (CFD) is a rare congenital disorder.
  • Key features include coronal synostosis, frontonasal dysplasia, and distinctive hair texture.
  • The syndrome predominantly affects females, with unclear genetic transmission patterns.

Purpose of the Study:

  • To present a series of 10 patients with craniofrontonasal dysplasia.
  • To describe the clinical presentation, surgical management, and outcomes.
  • To highlight the importance of early recognition for genetic counseling.

Main Methods:

  • Retrospective review of 10 patients with CFD treated at the Oxford Craniofacial Unit.
  • Description of a two-stage surgical approach: early frontal advancement and later correction of hypertelorism.

Related Experiment Videos

  • Details on surgical techniques, including facial bipartition for hypertelorism.

    • Main Results:

    • All 10 patients were female.
    • Nine patients exhibited characteristic dry, curly, or frizzy hair.
    • Surgical correction involved early frontal advancement and subsequent hypertelorism correction using facial bipartition in most cases.

    Conclusions:

    • Craniofrontonasal dysplasia requires a staged surgical approach for optimal outcomes.
    • Facial bipartition is an effective technique for hypertelorism correction in CFD.
    • Early recognition and genetic counseling are crucial for affected families.