Holoprosencephaly from conception to adulthood

Karin Weiss; Paul S Kruszka; Eric Levey; Max Muenke

doi:10.1002/ajmg.c.31624

Holoprosencephaly from conception to adulthood

Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):122-127. doi: 10.1002/ajmg.c.31624.

Authors

Karin Weiss¹, Paul S Kruszka², Eric Levey³, Max Muenke²

Affiliations

¹ Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
² National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
³ Health Services for Children with Special Needs, Inc., Washington, DC.

PMID: 30182446
DOI: 10.1002/ajmg.c.31624

Abstract

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.

Keywords: holoprosencephaly adult child management.

Publication types

Review

MeSH terms

Adolescent
Brain / abnormalities
Brain / embryology
Child
Child, Preschool
Female
Holoprosencephaly / diagnostic imaging*
Holoprosencephaly / embryology
Holoprosencephaly / therapy*
Humans
Infant
Infant, Newborn
Intellectual Disability / etiology
Male
Pregnancy
Seizures / therapy
Young Adult