An abnormal development of the forebrain, holoprosencephaly, is the most common cranial abnormality in infants with Trisomy 13. The embryology and implications of holoprosencephaly are described.

Researchers have uncovered the mechanism underlying frontotemporal lobar degeneration (FTLD) caused by variants in the valosin-containing protein (VCP) gene. Their study, which used a fruit fly ...

and Professor Hitoshi Okazawa from Institute of Science Tokyo and Maastricht University in the Netherlands uncovered the mechanism underlying frontotemporal lobar degeneration (FTLD) caused by ...

An infant is described who had a combination of lobar holoprosencephaly and open-lip schizencephaly. Midline fusion of the basal ganglia was associated with bilateral absence of abundant parts of ...