Holoprosencephaly: Genetic, neuroradiological, and clinical advances

Jin S. Hahn; Joseph D. Pinter

doi:10.1053/spen.2002.32507

Holoprosencephaly: Genetic, neuroradiological, and clinical advances

Jin S. Hahn, Joseph D. Pinter

Research output: Contribution to journal › Review article › peer-review

15 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 language	English (US)
Pages (from-to)	309-319
Number of pages	11
Journal	Seminars in pediatric neurology
Volume	9
Issue number	4
DOIs	https://doi.org/10.1053/spen.2002.32507
State	Published - Dec 2002
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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10.1053/spen.2002.32507

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title = "Holoprosencephaly: Genetic, neuroradiological, and clinical advances",

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.",

author = "Hahn, {Jin S.} and Pinter, {Joseph D.}",

note = "Funding Information: From the Department of Neurology, Stanford University School of Medicine, Stanford, CA; and the Department of Neurology, School of Medicine, University of California, Davis, CA. Supported, in part, by the Carter Centers for Brain Research in Holoprosencephaly and Related Malformations, and the Don and Linda Carter Foundation (JSH); and NIH Grant K12 NS01692 (JDP). Address reprint requests to Joseph D. Pinter, MD, Division of Child Neurology, UC Davis Medical Center, 4860 Y St, Suite 3020, Sacramento, CA 95817. Copyright 2002, Elsevier Science (USA). All rights reserved. 1071-9091/02/0904-0007535.00/0 dob lO.lO53/spen.2002.32507",

year = "2002",

month = dec,

doi = "10.1053/spen.2002.32507",

language = "English (US)",

volume = "9",

pages = "309--319",

journal = "Seminars in pediatric neurology",

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T2 - Genetic, neuroradiological, and clinical advances

AU - Hahn, Jin S.

AU - Pinter, Joseph D.

N1 - Funding Information: From the Department of Neurology, Stanford University School of Medicine, Stanford, CA; and the Department of Neurology, School of Medicine, University of California, Davis, CA. Supported, in part, by the Carter Centers for Brain Research in Holoprosencephaly and Related Malformations, and the Don and Linda Carter Foundation (JSH); and NIH Grant K12 NS01692 (JDP). Address reprint requests to Joseph D. Pinter, MD, Division of Child Neurology, UC Davis Medical Center, 4860 Y St, Suite 3020, Sacramento, CA 95817. Copyright 2002, Elsevier Science (USA). All rights reserved. 1071-9091/02/0904-0007535.00/0 dob lO.lO53/spen.2002.32507

PY - 2002/12

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N2 - 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.

AB - 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.

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Holoprosencephaly: Genetic, neuroradiological, and clinical advances

Abstract

ASJC Scopus subject areas

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