Inner epicanthal and nasal pits as presenting feature of holoprosencephaly

Holoprosencephaly (HPE) is a structural anomaly of the brain resulting from incomplete forebrain division during gestation. HPE is a continuum of brain malformations with the most severe form, alobar, referring to a midline monoventricle to a mild form with relatively normal facial appearance and subtle brain defects. There are a number of chromosome abnormalities associated with HPE as well as monogenic causes.