CHARGE Syndrome
| Autor: | Ryan E. Longman |
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| Rok vydání: | 2018 |
| Předmět: | |
| DOI: | 10.1016/b978-0-323-44548-1.00126-1 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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