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Renal Calculus in Floating-Harbor Syndrome: A Case Study.
Journal of Pediatric Health Care 2018 September 9
Floating-Harbor syndrome is a rare condition marked by short stature and delayed bone age, characteristic facial features, and speech impairment. Floating-Harbor syndrome commonly results from a sporadic genetic mutation. Renal abnormalities have rarely been encountered. We report the first patient with Floating-Harbor syndrome who spontaneously passed a renal calculus consisting of calcium oxalate monohydrate and calcium oxalate dihydrate. A renal ultrasound showed echotexture within the renal pyramids, hydronephrosis, and a cyst. Pediatric nurse practitioners should be alert to the unique features associated with Floating-Harbor syndrome and be prepared to monitor and treat the renal abnormalities that may accompany this uncommon condition.
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