Article
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.
The journal of obstetrics and gynaecology research - 1 Nov 2015
Bertucci Emma, Mazza Vincenzo, Lugli Licia, Ferrari Fabrizio, Stanghellini Ilaria, Percesepe Antonio
Abstract excerpt
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...
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