Open Access
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

Autoren

  • 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
Weitere Informationen

Publikationsverlauf

13. November 2013

27. November 2013

Publikationsdatum:
28. März 2014 (online)

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.