Importance of genetic testing in global health during the evaluation of familial microcephaly

Clin Case Rep. 2016 Aug 26;4(10):968-971. doi: 10.1002/ccr3.669. eCollection 2016 Oct.


A focused genetic workup is useful in determining the cause of familial microcephaly, especially in the setting of mildly different phenotypes. As illustrated by this case from an impoverished international urban location, one must not assume the etiology for the apparent familial microcephaly is the same for all affected members.

Keywords: 10p15.3 deletion; familial microcephaly; neurodevelopmental delays.

Publication types

  • Case Reports