Growth and development in thanatophoric dysplasia – an update 25 years later

Authors

  • Sarah M. Nikkel,

    Corresponding author
    1. Department of Genetics Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    2. Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada
    • Correspondence

      Sarah M. Nikkel, Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, Canada K1H 8L1. Tel: (613) 737-7600 x2611; Fax: (613) 738-4220; E-mail: snikkel@cheo.on.ca

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  • Nathalie Major,

    1. Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada
    2. Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
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  • W. James. King

    1. Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada
    2. Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
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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.

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