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
Descripción
Sumario: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.

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