title: Growth and development in thanatophoric dysplasia - an update 25 years later.
abstract: 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.
authors.affiliation: Department of Genetics Children's Hospital of Eastern Ontario Ottawa, Ontario, Canada ; Department of Pediatrics, University of Ottawa Ottawa, Ontario, Canada.
authors.forename: Sarah M
authors.initials: SM
authors.lastname: Nikkel
authors.affiliation: Department of Pediatrics, University of Ottawa Ottawa, Ontario, Canada ; Department of Pediatrics, Children's Hospital of Eastern Ontario Ottawa, Ontario, Canada.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Major
authors.affiliation: Department of Pediatrics, University of Ottawa Ottawa, Ontario, Canada ; Department of Pediatrics, Children's Hospital of Eastern Ontario Ottawa, Ontario, Canada.
authors.forename: W James
authors.initials: WJ
authors.lastname: King
keywords: FGFR3; survivor; thanatophoric dysplasia