Pediatric Urology Urologic Manifestations of Goldenhar Syndrome

-Objective. Goldenhar syndrome (oculoauriculovertebral dysplasia) is associated with anomalies in multiple organ systems. Renal abnormalities have also been reported with the complex, but the incidence of associated genitourinary malformations has not been defined. Method. We have reviewed our experience with 28 children with Goldenhar syndrome evaluated during the past twelve years. Twenty children underwent imaging evaluation of the urinary tract and 14 (70% of those imaged) children had urinary tract anomalies. Results. The majority of anomalies presented as an incidental finding on a screening ultrasound (8 patients) or during cardiac catheterization (2 patients). Two children presented with urinary tract infection, I child presented with renal failure, and another was diagnosed antenatally. The genitourinary anomalies included the following: ectopic and/or fused kidneys (8 patients), renal agenesis (7}, vesicoureteral reflux [5), ureteropelvic junction obstruction [2), ureteral duplication (2), and multicystic kidney [I patient). Four children have undergone surgical intervention. Conclusion. Our experience in children with Goldenhar syndrome suggests that the incidence of genitourinary anomalies is higher than previously reported. A screening ultrasound in the neonatal period allows for early intervention in those children with significant urologic abnormalities. Goldenhar syndrome (also referred to as oculoauriculovertebral dysplasia, first and second branchial arch syndrome) is a complex of unilateral craniofacial and vertebral anomalies) ,2 Signs associated with the syndrome include preauricular skin tags, epibulbar dermoids, cleft palate, maxillary or mandibular hypoplasia, ear microtia, and facial asymmetry. Patients may show some or all of these signs to various degrees. Anomalies of other organ systems have been noted frequently particularly cardiac, neural, and pulmonary. 3 Renal abnormalities have also been reported with the complex, 4-r but the incidence of associated genitourinary (GU) malformations has not been Submitted: July 30, 1993, accepted (with revisions): September 3, 1993 defined. Recent experience with a number of children found to have associated upper urinary tract abnormalities prompted us to review a large group of children with Goldenhar syndrome evaluated at our institutions during the past twelve years to determine the incidence of GU anomalies in affected children. MATERIAL AND METHODS Twenty-four children with Goldenhar syndrome have been evaluated at the University of Michigan since 1980. Two of 4 children with Goldenhar syndrome treated at the Indiana University and found to have urologic abnormalities are also included in this report. The age at diagnosis of the urologic anomaly ranged from one day to six years, with a median age of two years. There were 88 UROLOGY / .JANUARY 1994 / VOLUME 43, NUMBEe 1 TABLE I. Summary of urologic anomafies and surgical treatment Age at Diagnosis Clinical Patient GU Anomaly Presentation VCUG Urologic Anomaly Surgical Intervention MK 6 yrs Urinary tract No VUR Crossed fused ectopia, .. infection partial R UPJ obstruction KK 3 yrs Screening UTZ R VUR Fused pelvic kidney KP 2 yrs Urinary tract No VUR L duplication with ectopic infection ureter (upper), UPJ (lower) HB 4 yrs Screening UTZ Not done R pelvic kidney, agenesis L kidney JC 2 yrs L VUR L pelvic kidney agenesis R kidney HC 3 mos L VUR Agenesis R kidney JL 3 yrs Not done L pelvic kidney, bilateral UDT MN 2 mos Not done R pelvic kidney IF 1 wk No VUR Agenesis L kidney CD 1 mo Not done Agenesis L kidney AS 6 days No VUR Agenesis L kidney, ectopic R ureter to vagina BG 1 mo Not done L duplication, hydronephrosis