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.
Insights
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.
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.
Abstract:
C syndrome is an autosomal recessive craniosynostosis syndrome with characteristic cranial, facial, palate, and joint abnormalities. All but 2 of the reported patients have had severe mental retardation. We report on an 8-month-old girl with C syndrome and apparently normal development except for tasks hindered by her lower body abnormalities. We also offer a possible explanation for the palatal configuration.