Article
Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.
Prenatal diagnosis - 1 Jun 2016
Busa Tiffany, Legendre Marine, Bauge Marie, Quarello Edwin, Bretelle Florence, Bilan Frederic, Sigaudy Sabine, Gilbert-Dussardier Brigitte, Philip Nicole
Abstract excerpt
BACKGROUND: CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in CHD7. Diagnostic criteria have been proposed to improve diagnosis in fetuses at clinicopathological survey, but no criteria exist for fetal diagnosis during pregnancy. METHOD: We collected prenatal findings of 12 children with CHARGE syndrome diagnosed in the first 3 months and a CHD7 mutation. We retrieved data on...
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