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AJP Rep 2014; 4(01): 013-016
DOI: 10.1055/s-0033-1364192
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

Linda Mahgoub
1   Department of Pediatrics, The Stollery Children's Hospital, Edmonton, Alberta, Canada
,
Khalid Aziz
2   Department of Pediatrics, University of Alberta, NICU Royal Alexandra Hospital, Kingsway, Edmonton, Alberta, Canada
,
Dawn Davies
3   Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
,
Norma Leonard
4   Department of Medical Genetics, University of Alberta Campus, Edmonton, Alberta, Canada
› Author Affiliations
Further Information

Publication History

13 November 2013

27 November 2013

Publication Date:
28 March 2014 (online)

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Abstract

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.

Keywords

lissencephaly - Miller–Dieker syndrome - congenital lobar emphysema
 

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