Subject(s)
Craniofacial Abnormalities/diet therapy , Craniofacial Abnormalities/diagnosis , Lymphangiectasis, Intestinal/diet therapy , Lymphangiectasis, Intestinal/diagnosis , Lymphedema/diet therapy , Lymphedema/diagnosis , Adolescent , Diagnosis, Differential , Diet, Fat-Restricted/methods , Dietary Proteins/administration & dosage , Humans , Male , Noonan Syndrome/diagnosis , Noonan Syndrome/diet therapyABSTRACT
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.