Pfeiffer syndrome: the importance of prenatal diagnosis

Eur J Obstet Gynecol Reprod Biol. 2014 Oct:181:339-40. doi: 10.1016/j.ejogrb.2014.08.006. Epub 2014 Aug 13.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acrocephalosyndactylia / diagnostic imaging*
  • Acrocephalosyndactylia / genetics*
  • Adult
  • Female
  • Humans
  • Infant, Newborn
  • Mutation
  • Pedigree
  • Polyhydramnios / diagnostic imaging
  • Pregnancy
  • Premature Birth / etiology
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*
  • Ultrasonography, Prenatal

Substances

  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1