Growth and development in thanatophoric dysplasia – an update 25 years later
Article first published online: 15 NOV 2013
© 2013 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
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Clinical Case Reports
Volume 1, Issue 2, pages 75–78, December 2013
How to Cite
Clinical Case Reports 2013; 1(2): 75–78
- Issue published online: 12 DEC 2013
- Article first published online: 15 NOV 2013
- Manuscript Accepted: 18 OCT 2013
- Manuscript Revised: 14 OCT 2013
- Manuscript Received: 27 JUL 2013
- FGFR3 ;
- 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.