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Related Experiment Videos

C syndrome with apparently normal development.

R F Stratton1, N J Sykes, T W Hassler

  • 1Department of Pediatrics, Wilford Hall USAF Medical Center, Lackland AFB, Texas.

American Journal of Medical Genetics
|December 1, 1990
PubMed
Summary
This summary is machine-generated.

C syndrome, a craniosynostosis disorder, typically causes severe intellectual disability. This study presents a case of C syndrome in an infant with normal development, challenging previous observations.

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Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Medicine
  • Craniofacial Abnormalities

Background:

  • C syndrome is a rare autosomal recessive craniosynostosis disorder.
  • It is characterized by cranial, facial, palate, and joint abnormalities.
  • Severe mental retardation is a common feature in reported patients.