AI Article Synopsis
- CHARGE syndrome is a genetic disorder characterized by a combination of ocular coloboma, heart malformations, choanal atresia, growth or central nervous system issues, genital anomalies, and ear anomalies.
- Prenatal diagnosis of CHARGE syndrome can be indicated through the detection of certain major anomalies during ultrasound exams.
- In this case, researchers confirmed the diagnosis by identifying a mutation in the CHD7 gene in a family with no previous history of the syndrome.
Article Abstract
CHARGE syndrome comprises ocular coloboma (C), heart malformation (H), choanal atresia (A), retardation of growth and/or anomalies of the central nervous system (R), genital anomalies (G) and ear anomalies (E). Prenatal diagnosis of CHARGE syndrome may be suspected in the presence of specific major anomalies at ultrasound examination. We describe prenatal diagnosis of CHARGE syndrome confirmed by identification of a mutation in CHD7 gene in a previously unaffected family.
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| http://dx.doi.org/10.1002/pd.3876 | DOI Listing |
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