Growth and Development in Thanatophoric Dysplasia

Am J Med Genet. 1989 Aug;33(4):508-12. doi: 10.1002/ajmg.1320330420.


Two cases of prolonged survival of thanatophoric dysplasia are presented, in which ventilatory support was initiated in the neonatal period because of respiratory distress. Both patients required a ventriculoperitoneal shunt for hydrocephalus and had decompression of the posterior fossa. The history of each patient has been characterized by profound developmental delay and dramatic growth failure.

Publication types

  • Case Reports

MeSH terms

  • Arm / diagnostic imaging
  • Body Height
  • Body Weight
  • Bone Development
  • Child, Preschool
  • Female
  • Humans
  • Hydrocephalus
  • Leg / diagnostic imaging
  • Male
  • Osteochondrodysplasias / physiopathology*
  • Radiography
  • Spine / diagnostic imaging
  • Thanatophoric Dysplasia / physiopathology*