Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

Abstract

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