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Keywords:

  • FGFR3 ;
  • survivor;
  • thanatophoric dysplasia.

Key Clinical Message

Thanatophoric dysplasia is typically a neonatal lethal condition. However, for those rare individuals who do survive, there is the development of seizures, progression of craniocervical stenosis, ventilator dependence, and limitations in motor and cognitive abilities. Families must be made aware of these issues during the discussion of management plans.