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.
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester / Bertucci, Emma; Mazza, Vincenzo; Lugli, Licia; Ferrari, Fabrizio; Stanghellini, Ilaria; Percesepe, Antonio. - In: THE JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH. - ISSN 1341-8076. - 41:11(2015), pp. 1831-1834. [10.1111/jog.12791]
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