Author(s): Cassart M, Eurin D, Didier F, Guibaud L, Avni EF
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Abstract OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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 is present. In non-affected families, Bardet-Biedl syndrome should be included in the differential diagnosis whenever such an appearance is discovered in utero. The postnatal evolution of the renal sonographic findings is variable and normalization generally occurs by the age of 2 years. Copyright 2004 ISUOG. Published by John Wiley & Sons, Ltd.
This article was published in Ultrasound Obstet Gynecol
and referenced in Journal of Molecular and Genetic Medicine