|Year : 2003 | Volume
| Issue : 2 | Page : 167-169
Goldenhar syndrome and urogenital abnormalities
Mohan Marulaiah, Anindya Chattopadhyay, Vijaykumar, PLNG Rao
Department of Paediatric Surgery, Kasturba Medical College, Manipal, India
Department of Paediaric Surgery, Kasturba Medical College, Manipal - 576 119
Source of Support: None, Conflict of Interest: None
| Abstract|| |
The Goldenhar syndrome (oculo-auriculo-vertebral syndrome or 1st and 2nd branchial arch syndrome) is a complex of craniofacial anomalies. It has been associated with anomalies in other systems and with abnormalities of the urogenital system. We present a case of Goldenhar syndrome with multiple renal anomalies and a urogenital sinus, which has not been reported before.
Keywords: Goldenhar syndrome, urogenital anomalies.
|How to cite this article:|
Marulaiah M, Chattopadhyay A, Vijaykumar, Rao P. Goldenhar syndrome and urogenital abnormalities. Indian J Urol 2003;19:167-9
| Case Report|| |
A 10-year-old girl presented to us with complaints of incontinence of urine and inability to feel bladder sensation. She was born with multiple anomalies that included macrostomia, pre-auricular skin tags, bilateral mandibular hypoplasia and limbal dermoid [Figure - 1]. She was operated for macrostomia and pre-auricular skin tags but at that time no urological evaluation was done. On examination she had dextrocardia. The girl had the urethral opening on the anterior vaginal wall just proximal to hyrnenal mucosal tags and the anus was normal. There was no obvious neurological deficit and the spine was normal. On evaluation she had a large smooth-walled bladder with grade 5 VUR on the left side [Figure - 2] with gross hydroureteronephrosis and non-functioning left kidney. The right kidney was ectopic and present in the midline at the level of L3 vertebra. Left nephroureterectomy was done during which patient was noticed to have malrotation without Ladd's bands. Urodynamic evaluation showed the patient had a hypotonic, hyporeflexic large capacity bladder. She underwent a meatoplasty of urethral orifice at a second sitting to enable her to perform clean intermittent catheterization (CIC). Patient is now on a regime of CIC and prophylactic antibiotics.
| Comments|| |
Goldenhar syndrome is a complex of craniofacial anomalies associated with vertebral, cardiac, neural, pulmonary and genitourinary anomalies.  Although not well reported, up to 70% of cases have urogenital anomalies that include fused kidneys, renal agenesis, VUR, UPJ obstruction, ureteral duplication, multicystic kidney and retrocaval ureter. , Our patient had a right ectopic kidney with left grade 5 VUR and hydroureteronephrosis. She also had a hypotonic, large capacity bladder with a urogenital sinus, which has not been reported earlier in association with Goldenhar syndrome. Any patient with Goldenhar syndrome should be evaluated early for urological abnormalities and treated promptly for problems to avoid further complications.
| References|| |
|1.||Smith DW. Facio-auriculo-vertebral spectrum. In : Recognizable patterns of human malformation. Genetic, embryologic and clinical aspects. Philadelphia. WB Saunders 1982; 497-500. |
|2.||Ritchey ML, Nurheck J, Huang C. Keating MA, Bloom DA. Urological manifestations of Goldenhar syndrome. Urology 1994: 43: 88-9. |
|3.||lshitoya S. Arai Y, Waki K. Okubo K, Suzuki Y. Left retrocaval ureter associated with the Goldenhar syndrome (Branchial arch syndrome). J Urol 1997; 158: 572-3. |
[Figure - 1], [Figure - 2]