Holoprosencephaly: Genetic, neuroradiological, and clinical advances

Jin S. Hahn, Joseph D. Pinter

Research output: Contribution to journalReview article

13 Scopus citations

Abstract

Recent advances in genetics and neuroimaging have greatly contributed to our understanding of the spectrum of midline brain and craniofacial malformations known as holoprosencephaly. This review summarizes our current understanding of the epidemiology and molecular-genetic bases of these malformations, as well as recent neuroradiological and clinical studies, which have revealed that the manifestations of holoprosencephaly are far more variable than previously appreciated. We also discuss the implications for and importance of accurate diagnosis, prognosis, management of common medical problems, and counseling for affected families.

Original languageEnglish (US)
Pages (from-to)309-319
Number of pages11
JournalSeminars in pediatric neurology
Volume9
Issue number4
DOIs
StatePublished - Dec 2002

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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