Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

Miller–Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema. We believe that this is the first reported case of the two conditions pres...

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Autores principales: Mahgoub, Linda, Aziz, Khalid, Davies, Dawn, Leonard, Norma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical Publishers 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078132/
https://www.ncbi.nlm.nih.gov/pubmed/25032053
http://dx.doi.org/10.1055/s-0033-1364192
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author Mahgoub, Linda
Aziz, Khalid
Davies, Dawn
Leonard, Norma
author_facet Mahgoub, Linda
Aziz, Khalid
Davies, Dawn
Leonard, Norma
author_sort Mahgoub, Linda
collection PubMed
description Miller–Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema. We believe that this is the first reported case of the two conditions presenting in the same patient.
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spelling pubmed-40781322014-07-16 Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema Mahgoub, Linda Aziz, Khalid Davies, Dawn Leonard, Norma AJP Rep Article Miller–Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema. We believe that this is the first reported case of the two conditions presenting in the same patient. Thieme Medical Publishers 2014-03-28 2014-05 /pmc/articles/PMC4078132/ /pubmed/25032053 http://dx.doi.org/10.1055/s-0033-1364192 Text en © Thieme Medical Publishers
spellingShingle Article
Mahgoub, Linda
Aziz, Khalid
Davies, Dawn
Leonard, Norma
Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema
title Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema
title_full Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema
title_fullStr Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema
title_full_unstemmed Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema
title_short Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema
title_sort miller–dieker syndrome associated with congenital lobar emphysema
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078132/
https://www.ncbi.nlm.nih.gov/pubmed/25032053
http://dx.doi.org/10.1055/s-0033-1364192
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