Thanatophoric dysplasia type 2 with encephalocele during the second trimester

Am J Med Genet A. 2006 Jul 1;140(13):1476-7. doi: 10.1002/ajmg.a.31293.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Adult
  • Encephalocele / complications*
  • Encephalocele / genetics
  • Encephalocele / pathology
  • Female
  • Humans
  • Infant, Newborn
  • Mutation / genetics
  • Pregnancy
  • Pregnancy Trimester, Second*
  • Thanatophoric Dysplasia / genetics
  • Thanatophoric Dysplasia / physiopathology*
  • Ultrasonography, Prenatal