Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome)

Clin Dysmorphol. 2014 Jan;23(1):12-15. doi: 10.1097/MCD.0000000000000021.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Carbohydrate Sulfotransferases
  • Child, Preschool
  • Codon, Nonsense
  • Craniosynostoses / complications
  • Craniosynostoses / genetics*
  • Craniosynostoses / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / pathology
  • Sulfotransferases / genetics*

Substances

  • Codon, Nonsense
  • Sulfotransferases

Supplementary concepts

  • Larsen Syndrome