Review ArticleHoloprosencephaly: recent advances and new insightsKinsman, Stephen L.a,b; Plawner, Lauren L.a,c; Hahn, Jin S.a,c Author Information aCarter Centers for Brain Research in Holoprosencephaly and Related Malformations, bKennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, and cLucile Packard Children's Hospital and Stanford University School of Medicine, Palo Alto, California, USA Correspondence to Stephen L. Kinsman, MD, Kennedy Krieger Institute, 707 North Broadway, Baltimore, Maryland 21205, USA. Tel: +1 410 502 9520; fax: +1 410 502 9292; e-mail: [email protected] Abbreviations HPE: holoprosencephaly MIHF: middle interhemispheric fusion SHH: Sonic Hedgehog gene Current Opinion in Neurology: April 2000 - Volume 13 - Issue 2 - p 127-132 Buy Abstract Holoprosencephaly is a relatively common brain malformation occurring in 5-12/100 000 live births. The astonishing growth in molecular genetic medicine has provided the field of developmental nervous system malformations with new perspectives and tools for unraveling its mysteries and offering better information for clinicians and families. This is particularly evident in the group of complex midline malformations known as holoprosencephaly. Although new molecular findings have shed light on some of the causes and manifestations of this malformation, there remains a need to build on the existing clinical knowledge so that we may develop more effective treatments and improve the quality of life of these patients. © 2000 Lippincott Williams & Wilkins, Inc.