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Related Experiment Videos

Craniofrontonasal dysplasia.

L Kapusta1, H G Brunner, B C Hamel

  • 1Department of Paediatrics, University Hospital Nijmegen, The Netherlands.

European Journal of Pediatrics
|November 1, 1992
PubMed
Summary
This summary is machine-generated.

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Craniofrontonasal dysplasia (CFND) presents with distinct facial features and craniosynostosis. This X-linked disorder is typically more severe in females, though males can also be significantly affected.

Area of Science:

  • Medical Genetics
  • Pediatric Neurology
  • Skeletal Dysplasias

Background:

  • Craniofrontonasal dysplasia (CFND) is a rare genetic disorder.
  • Characterized by distinctive facial anomalies and craniosynostosis.
  • Typically exhibits X-linked inheritance with variable expressivity.

Purpose of the Study:

  • To describe the clinical spectrum and long-term outcomes of nine patients with CFND.
  • To investigate the inheritance patterns and phenotypic variability within families.
  • To compare clinical expression between males and females with CFND.

Main Methods:

  • Clinical case series reporting on nine patients with CFND.
  • Detailed follow-up ranging from 2 to 13 years.
  • Assessment of facial features, extracranial abnormalities, and developmental milestones.

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Main Results:

  • Seven patients presented with classical CFND features, including frontonasal dysplasia and coronal craniosynostosis.
  • Extracranial findings such as brittle nails and syndactyly were noted.
  • Hypotonia and joint laxity were common; mild developmental delay observed in some cases.
  • Clinical expression was more severe in females, but a severely affected male case was identified.

Conclusions:

  • CFND is a complex X-linked disorder with significant phenotypic variability.
  • Long-term management may require supportive measures for hypotonia and joint laxity.
  • The observation of a severely affected male challenges previous assumptions about CFND expression.