C syndrome with apparently normal development

Am J Med Genet. 1990 Dec;37(4):460-2. doi: 10.1002/ajmg.1320370406.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / physiopathology*
  • Cognition
  • Craniosynostoses / genetics
  • Craniosynostoses / physiopathology*
  • Female
  • Genes, Recessive
  • Humans
  • Infant
  • Intellectual Disability
  • Palate / abnormalities*
  • Psychomotor Performance
  • Skull / abnormalities*
  • Syndrome