Holoprosencephaly from conception to adulthood.

Karin Weiss Paul S KruszkaEric LeveyMax Muenke

Published in: American journal of medical genetics. Part C, Seminars in medical genetics (2019)

Holoprosencephaly (HPE) consists of a spectrum of malformations related to incomplete separation of the prosencephalon. There is a wide clinical variability depending on the HPE subtype seen on imaging. Early postnatal lethality is common, however a significant fraction of newborns diagnosed with HPE will survive into childhood and even adulthood. Here we will review the clinical management of HPE during different ages from the prenatal period to adulthood.

Keyphrases

early life
depressive symptoms
pregnant women
high resolution
preterm infants
gestational age
liquid chromatography
mass spectrometry
photodynamic therapy