Schinzel-Giedion syndrome

A 2-month-old girl was brought to the Department of Pediatrics at Waltayama Rosai Hospital because of poor feeding since 1 month of age. She was the t hird child of young healthy nonconsanguineous parents whose first son was h ealthy but whose second son had died of 18 trisomy. Physical examination sh owed midfacial hypoplasia with coarse dysmorphic features, choanal stenosis , remarkable abdominal distention and bilateral talipes equivarus. Abdomina l ultrasonography, computed tomography and drip infusion pyelogram showed l eft severe hydronephrosis and right moderate hydronephrosis. Having diagnos ed Schinzel-Giedion syndrome, a left ureteroneocystostomy with tailoring wa s performed to preserve renal functions and to eliminate the urinary tract infection at the age of 3 months.