Holoprosencephaly: recommendations for diagnosis and management.

ABSTRACT:

Purpose of review

This review presents recent advances in our understanding and clinical management of holoprosencephaly (HPE). HPE is the most common developmental disorder of the human forebrain and involves incomplete or failed separation of the cerebral hemispheres. The epidemiology, clinical features, causes, diagnostic approach, management, and outcomes of HPE are discussed.

Recent findings

Chromosomal abnormalities account for the most commonly identified cause of HPE. However, there are often unidentifiable causes in patients with nonsyndromic, nonchromosomal forms of HPE. The prevalence of HPE may be underestimated given that patients with mild forms often are not diagnosed until they present with severely affected children. Pregestational maternal diabetes mellitus

SUBMITTER: Kauvar EF 

PROVIDER: S-EPMC4131980 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature