CHARGE Syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

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 languageEnglish (US)
Title of host publicationObstetric Imaging
Subtitle of host publicationFetal Diagnosis and Care: Second Edition
PublisherElsevier Inc.
Pages541-543.e1
ISBN (Electronic)9780323497367
ISBN (Print)9780323445481
DOIs
StatePublished - Sep 13 2017

Fingerprint

CHARGE Syndrome
Amniocentesis
Genetic Testing
Prenatal Diagnosis
Molecular Biology
Incidence
Cognitive Dysfunction

Keywords

  • CHARGE syndrome
  • CHD-7
  • Choanal atresia
  • Multiple congenital malformations

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Longman, R. E. (2017). CHARGE Syndrome. In Obstetric Imaging: Fetal Diagnosis and Care: Second Edition (pp. 541-543.e1). Elsevier Inc.. https://doi.org/10.1016/B978-0-323-44548-1.00126-1

CHARGE Syndrome. / Longman, Ryan E.

Obstetric Imaging: Fetal Diagnosis and Care: Second Edition. Elsevier Inc., 2017. p. 541-543.e1.

Research output: Chapter in Book/Report/Conference proceedingChapter

Longman, RE 2017, CHARGE Syndrome. in Obstetric Imaging: Fetal Diagnosis and Care: Second Edition. Elsevier Inc., pp. 541-543.e1. https://doi.org/10.1016/B978-0-323-44548-1.00126-1
Longman RE. CHARGE Syndrome. In Obstetric Imaging: Fetal Diagnosis and Care: Second Edition. Elsevier Inc. 2017. p. 541-543.e1 https://doi.org/10.1016/B978-0-323-44548-1.00126-1
Longman, Ryan E. / CHARGE Syndrome. Obstetric Imaging: Fetal Diagnosis and Care: Second Edition. Elsevier Inc., 2017. pp. 541-543.e1
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