Open AccessGrowth and development in thanatophoric dysplasia – an update 25 years later
Author(s) -
Nikkel Sarah M.,
Major Nathalie,
King W. James.
Publication year - 2013
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.29
Subject(s) - medicine , dysplasia , pediatrics , cognition , intensive care medicine , psychiatry , pathology
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.