Cystic fibrosis and Silver–Russell syndrome due to a partial maternal isodisomy of chromosome 7

If an infant with cystic fibrosis exhibits failure to thrive, despite adequate disease management, Silver–Russell syndrome should be considered, given the locations of these conditions in the genome. However, an earlier clue to the diagnosis is small‐for‐gestational‐age birth.

Detalles Bibliográficos
Autores principales: Gerbrands, Lonneke C., Haarman, Eric G., Hankel, Margot A., Finken, Martijn J. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628200/
https://www.ncbi.nlm.nih.gov/pubmed/29026575
http://dx.doi.org/10.1002/ccr3.1061
_version_ 1783268833857896448
author Gerbrands, Lonneke C.
Haarman, Eric G.
Hankel, Margot A.
Finken, Martijn J. J.
author_facet Gerbrands, Lonneke C.
Haarman, Eric G.
Hankel, Margot A.
Finken, Martijn J. J.
author_sort Gerbrands, Lonneke C.
collection PubMed
description If an infant with cystic fibrosis exhibits failure to thrive, despite adequate disease management, Silver–Russell syndrome should be considered, given the locations of these conditions in the genome. However, an earlier clue to the diagnosis is small‐for‐gestational‐age birth.
format Online
Article
Text
id pubmed-5628200
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-56282002017-10-12 Cystic fibrosis and Silver–Russell syndrome due to a partial maternal isodisomy of chromosome 7 Gerbrands, Lonneke C. Haarman, Eric G. Hankel, Margot A. Finken, Martijn J. J. Clin Case Rep Case Reports If an infant with cystic fibrosis exhibits failure to thrive, despite adequate disease management, Silver–Russell syndrome should be considered, given the locations of these conditions in the genome. However, an earlier clue to the diagnosis is small‐for‐gestational‐age birth. John Wiley and Sons Inc. 2017-09-08 /pmc/articles/PMC5628200/ /pubmed/29026575 http://dx.doi.org/10.1002/ccr3.1061 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Gerbrands, Lonneke C.
Haarman, Eric G.
Hankel, Margot A.
Finken, Martijn J. J.
Cystic fibrosis and Silver–Russell syndrome due to a partial maternal isodisomy of chromosome 7
title Cystic fibrosis and Silver–Russell syndrome due to a partial maternal isodisomy of chromosome 7
title_full Cystic fibrosis and Silver–Russell syndrome due to a partial maternal isodisomy of chromosome 7
title_fullStr Cystic fibrosis and Silver–Russell syndrome due to a partial maternal isodisomy of chromosome 7
title_full_unstemmed Cystic fibrosis and Silver–Russell syndrome due to a partial maternal isodisomy of chromosome 7
title_short Cystic fibrosis and Silver–Russell syndrome due to a partial maternal isodisomy of chromosome 7
title_sort cystic fibrosis and silver–russell syndrome due to a partial maternal isodisomy of chromosome 7
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628200/
https://www.ncbi.nlm.nih.gov/pubmed/29026575
http://dx.doi.org/10.1002/ccr3.1061
work_keys_str_mv AT gerbrandslonnekec cysticfibrosisandsilverrussellsyndromeduetoapartialmaternalisodisomyofchromosome7
AT haarmanericg cysticfibrosisandsilverrussellsyndromeduetoapartialmaternalisodisomyofchromosome7
AT hankelmargota cysticfibrosisandsilverrussellsyndromeduetoapartialmaternalisodisomyofchromosome7
AT finkenmartijnjj cysticfibrosisandsilverrussellsyndromeduetoapartialmaternalisodisomyofchromosome7

Ejemplares similares