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Related Experiment Videos

Pitfalls in counselling: the craniosynostoses.

R Marini1, K Temple, L Chitty

  • 1Department of Endocrinology, Ospedale Pediatrico Bambino Gesù, Roma, Italy.

Journal of Medical Genetics
|February 1, 1991
PubMed
Summary

Craniosynostosis exhibits variable gene expression and penetrance, even in identical twins. Genetic counseling for affected families requires careful consideration of these complexities.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Craniosynostosis is a congenital condition involving premature fusion of skull sutures.
  • The genetic basis of craniosynostosis often presents with variable expressivity and reduced penetrance.
  • Understanding these genetic patterns is crucial for accurate diagnosis and family counseling.

Purpose of the Study:

  • To illustrate the phenotypic variability in craniosynostosis across three families.
  • To highlight challenges in genetic diagnosis and counseling due to variable gene expression and penetrance.
  • To emphasize the importance of detailed family history and early diagnostic tools.

Main Methods:

  • Case study analysis of three families with craniosynostosis.
  • Retrospective review of family photographs for identifying gene carriers.
  • Analysis of early skull X-rays to confirm diagnoses, including in cases of apparent discordance.

Main Results:

  • Variable expression and penetrance of craniosynostosis were observed within and between families.
  • Gene carriers were identified retrospectively in two families through photographic evidence.
  • Identical twins initially presumed discordant for sagittal craniosynostosis were confirmed affected via early X-rays.

Conclusions:

  • Craniosynostosis displays significant variability in how genetic mutations manifest, impacting clinical presentation.
  • Genetic counseling for craniosynostosis requires acknowledging potential for missed diagnoses and retrospective identification.
  • Thorough evaluation, including historical data and imaging, is essential for comprehensive family assessment.

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