Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet-Biedl syndrome

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
M CassartE F Avni

Abstract

To describe an antenatal sonographic renal pattern encountered in Bardet-Biedl syndrome, a rare autosomal recessive disorder whose definitive diagnosis is often delayed, and to describe the evolution of the sonographic appearance of the kidneys after birth. Among a large group of fetuses with hyperechoic kidneys, we retrospectively analyzed the prenatal sonographic findings and clinical and postnatal renal sonographic evolution of 11 patients who were found to be affected by Bardet-Biedl syndrome. All 11 fetuses presented enlarged homogeneously hyperechoic kidneys without corticomedullary differentiation. The diagnosis was established before birth in three fetuses thanks to their familial history. It was confirmed during childhood in the remaining eight based on the development of the classic features of the syndrome. In the postnatal period, the prenatal pattern persisted for a few months in all 11 cases. The sonographic aspects of the kidneys normalized in most cases between 1 and 2 years after birth. In affected families, the prenatal appearance of enlarged hyperechoic kidneys without corticomedullary differentiation should prompt a diagnosis of recurrence in the family of Bardet-Biedl syndrome, especially when polydactyly i...Continue Reading

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Citations

May 1, 2010·Pediatric Radiology·Fred E Avni, Michelle Hall
Mar 16, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Jonathan L Tobin, Philip L Beales
Jan 20, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Audrey PutouxMarie-Claire Gubler
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