1Radiology, Western Galilee Hospital 2Pediatric Nephrology, Western Galilee Hospital 3Institute of Human Genetics, Western Galilee Hospital
US is an important tool in the detection of renal anomalies in both fetal and postnatal life and it can trigger a complete survey and genetic investigation of the fetus or of the child if the pathology depicted suggests kidney involvement associated with genetic syndromes.
This investigation may lead to the detection of previously unsuspected pathology in the first grade siblings and has an important impact on future pregnancies.
We present the imaging findings of 8 patients with rare genetic syndromes who underwent ultrasound examination as part of a work-up for abnormal kidney function , focusing on the urinary tract abnormalities found and their significance in the diagnosis of the specific genetic syndrome.
We included additional imaging findings that characterize the syndrome as well as relevant clinical data and family history.
Syndromes including Joubert, Lesch –Nyhan, Bardet – Biedl, Renal –Coloboma , Bedron ,Bartter and Kenny Caffey are reviewed and the role of the ultrasound in both the detection and the follow up of these condition is discussed.
