CHARGE Syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

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 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 - Jan 1 2018

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Longman, R. E. (2018). 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