| Phenotype | Dysmorphic features: slight epicanthal folds, inceased inner canthal distance, frontal upsweep, posterior cowlick, coarse hair, area of alopecia, hx of patchy,intermittent hair loss, partially attached pinnae, mild micrognathia, mild pectus excavatum; soft systolic murmurs with nl echo, mildly restricted mvmt of fingers;bilateral hydronephrosis with thin abdominal wall, renal insufficiency; developmental delay. Renal insufficiency caused by hydronephrosis. Patient had grade V bilateral vesicoureteral reflux with grade II-III hydronephrosis. His initial high serum creatinine responded well to vesicostomy, so it was closed. But because of persistent hydronephrosis and VU reflux, he had surgical reimplantation of the ureters and ureteral tapering. Patient has no history of seizures. |