CHARGE Syndrome

Ryan E. Longman

doi:10.1016/B978-0-323-44548-1.00126-1

CHARGE Syndrome

Ryan E. Longman

Department of Obstetrics & Gynecology

Research output: Chapter in Book/Report/Conference proceeding › Chapter

1 Scopus citations

Abstract

CHARGE syndrome is an autosomal dominant disorder characterized by multiple congenital malformations along with developmental and cognitive impairments. The incidence of CHARGE syndrome is 1?:?8500 to 1?:?10,000. The only known genetic etiology for CHARGE syndrome is CHD-7, which accounts for up to 65% of cases. Prenatal diagnosis can be made using ultrasound and amniocentesis for CHD-7 molecular genetic testing. Postnatal management should consist of a multidisciplinary team approach to correct structural defects and assess and treat developmental and cognitive impairments.

Original language	English (US)
Title of host publication	Obstetric Imaging
Subtitle of host publication	Fetal Diagnosis and Care: Second Edition
Publisher	Elsevier Inc.
Pages	541-543.e1
ISBN (Electronic)	9780323497367
ISBN (Print)	9780323445481
DOIs	https://doi.org/10.1016/B978-0-323-44548-1.00126-1
State	Published - Jan 1 2018

Keywords

CHARGE syndrome
CHD-7
Choanal atresia
Multiple congenital malformations

ASJC Scopus subject areas

Medicine(all)

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10.1016/B978-0-323-44548-1.00126-1

Cite this

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title = "CHARGE Syndrome",

abstract = "CHARGE syndrome is an autosomal dominant disorder characterized by multiple congenital malformations along with developmental and cognitive impairments. The incidence of CHARGE syndrome is 1?:?8500 to 1?:?10,000. The only known genetic etiology for CHARGE syndrome is CHD-7, which accounts for up to 65% of cases. Prenatal diagnosis can be made using ultrasound and amniocentesis for CHD-7 molecular genetic testing. Postnatal management should consist of a multidisciplinary team approach to correct structural defects and assess and treat developmental and cognitive impairments.",

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AB - CHARGE syndrome is an autosomal dominant disorder characterized by multiple congenital malformations along with developmental and cognitive impairments. The incidence of CHARGE syndrome is 1?:?8500 to 1?:?10,000. The only known genetic etiology for CHARGE syndrome is CHD-7, which accounts for up to 65% of cases. Prenatal diagnosis can be made using ultrasound and amniocentesis for CHD-7 molecular genetic testing. Postnatal management should consist of a multidisciplinary team approach to correct structural defects and assess and treat developmental and cognitive impairments.

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KW - CHD-7

KW - Choanal atresia

KW - Multiple congenital malformations

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BT - Obstetric Imaging

PB - Elsevier Inc.

ER -

CHARGE Syndrome

Abstract

Keywords

ASJC Scopus subject areas

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