Holoprosencephaly: Genetic, neuroradiological, and clinical advances

Jin S. Hahn, Joseph Pinter

Research output: Contribution to journalArticle

13 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Holoprosencephaly
Neuroimaging
Counseling
Molecular Biology
Epidemiology
Brain
Clinical Studies

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Holoprosencephaly : Genetic, neuroradiological, and clinical advances. / Hahn, Jin S.; Pinter, Joseph.

In: Seminars in Pediatric Neurology, Vol. 9, No. 4, 12.2002, p. 309-319.

Research output: Contribution to journalArticle

@article{d1543dcfcdda46869202e3896ca1c503,
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 Joseph Pinter",
year = "2002",
month = "12",
doi = "10.1053/spen.2002.32507",
language = "English (US)",
volume = "9",
pages = "309--319",
journal = "Seminars in Pediatric Neurology",
issn = "1071-9091",
publisher = "W.B. Saunders Ltd",
number = "4",

}

TY - JOUR

T1 - Holoprosencephaly

T2 - Genetic, neuroradiological, and clinical advances

AU - Hahn, Jin S.

AU - Pinter, Joseph

PY - 2002/12

Y1 - 2002/12

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.

UR - http://www.scopus.com/inward/record.url?scp=0036931690&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036931690&partnerID=8YFLogxK

U2 - 10.1053/spen.2002.32507

DO - 10.1053/spen.2002.32507

M3 - Article

C2 - 12523555

AN - SCOPUS:0036931690

VL - 9

SP - 309

EP - 319

JO - Seminars in Pediatric Neurology

JF - Seminars in Pediatric Neurology

SN - 1071-9091

IS - 4

ER -