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Case Reports
. 2012 Jul;32(7):692-4.
doi: 10.1002/pd.3876. Epub 2012 Apr 20.

Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family

Estelle Colin, Dominique Bonneau, Francoise Boussion, Agnès Guichet, Benoit Delorme, Stéphane Triau, Phillippe Gillard, Alain Kitzis, Frederic Bilan
Case Reports

Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family

Estelle Colin et al. Prenat Diagn. 2012 Jul.

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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