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Start Over Author "Bertucci, Emma" Topic prenatal diagnosis Journal journal of obstetrics & gynaecology research

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1 results on '"Bertucci, Emma"'

1. Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.

Author

Bertucci, Emma, Mazza, Vincenzo, Lugli, Licia, Ferrari, Fabrizio, Stanghellini, Ilaria, and Percesepe, Antonio

Subjects
*KIDNEY disease diagnosis, *DIAGNOSIS of deafness, *AUDITORY perception testing, *BRANCHIO-oto-renal syndrome, *COMPUTED tomography, *FETAL ultrasonic imaging, *MAGNETIC resonance imaging, *SECOND trimester of pregnancy, *PRENATAL diagnosis, *CHILDREN, *FETUS, *GENETICS, *DIAGNOSIS
Abstract

Branchio-oto-renal syndrome combines branchial arch defects, hearing impairment and renal malformations or hypoplasia. Due to the high phenotypic variability, prenatal diagnosis has a limited prognostic value in mutation-positive cases. We report the first branchio-oto-renal syndrome molecular prenatal diagnosis and ultrasonographic follow-up, showing a normal renal growth until the 24th week of pregnancy, a growth deceleration during the third trimester and a renal volume recovery during the first months of life. [ABSTRACT FROM AUTHOR]

Published
2015
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