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

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...

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Detalles Bibliográficos
Autores principales: Nikkel, Sarah M, Major, Nathalie, King, W James
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2013
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184754/
https://www.ncbi.nlm.nih.gov/pubmed/25356217
http://dx.doi.org/10.1002/ccr3.29
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author Nikkel, Sarah M
Major, Nathalie
King, W James
author_facet Nikkel, Sarah M
Major, Nathalie
King, W James
author_sort Nikkel, Sarah M
collection PubMed
description 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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spelling pubmed-41847542014-10-29 Growth and development in thanatophoric dysplasia – an update 25 years later Nikkel, Sarah M Major, Nathalie King, W James Clin Case Rep Case Reports 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. BlackWell Publishing Ltd 2013-12 2013-11-15 /pmc/articles/PMC4184754/ /pubmed/25356217 http://dx.doi.org/10.1002/ccr3.29 Text en © 2013 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Nikkel, Sarah M
Major, Nathalie
King, W James
Growth and development in thanatophoric dysplasia – an update 25 years later
title Growth and development in thanatophoric dysplasia – an update 25 years later
title_full Growth and development in thanatophoric dysplasia – an update 25 years later
title_fullStr Growth and development in thanatophoric dysplasia – an update 25 years later
title_full_unstemmed Growth and development in thanatophoric dysplasia – an update 25 years later
title_short Growth and development in thanatophoric dysplasia – an update 25 years later
title_sort growth and development in thanatophoric dysplasia – an update 25 years later
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184754/
https://www.ncbi.nlm.nih.gov/pubmed/25356217
http://dx.doi.org/10.1002/ccr3.29
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