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 | |
| 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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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