Long-term survival in typical thanatophoric dysplasia type 1

Am J Med Genet. 1997 Jun 27;70(4):427-36.


Thanatophoric dysplasia (TD), a severe skeletal dysplasia, is virtually always lethal neonatally, although a few previous reports have documented survival up to 4.75 years. We present a patient with survival beyond age 9 years and summarize his growth, development and medical history. The common Arg248Cys mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3) was identified, eliminating the possibility that his long-term survival is attributable to an atypical mutation. This patient (and at least one other TD long-term survivor) have a rare skin disorder, acanthosis nigricans, which also occurs in Crouzon syndrome when caused by a FGFR3 mutation. Therefore, any molecular model of the origin of acanthosis nigricans secondary to FGFR3 mutations must account for the association of diverse mutations and these cutaneous effects.

Publication types

  • Case Reports

MeSH terms

  • Acanthosis Nigricans / diagnosis
  • Acanthosis Nigricans / genetics
  • Adult
  • Child
  • Female
  • Humans
  • Male
  • Point Mutation / genetics
  • Protein-Tyrosine Kinases*
  • Radiography
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics
  • Survivors*
  • Thanatophoric Dysplasia / diagnostic imaging
  • Thanatophoric Dysplasia / genetics*
  • Thanatophoric Dysplasia / mortality


  • Receptors, Fibroblast Growth Factor
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3