UROGENITAL ANOMALIES IN GOLDENHAR SYNDROME – A RARE CASE REPORT

Dr Shyam Srinivasan*, Dr Prachi Naragude, Dr Subhash Walinjkar, Dr Ashish Wanare

ABSTRACT

Goldenhar syndrome is one of the rare congenital developmental anomalies involving the structures developing from first and second branchial arches. The classic features of Goldenhar syndrome include ocular changes such as microphthalmia, epibulbar dermoids, lipodermoids and coloboma. Aural features such as preauricular tragi, hearing loss and microtia or even anotia may be present. Costo-vertebral anomalies such as scoliosis, hemivertebrae and cervical fusion are usually present. Micrognathia may also be present which may cause feeding difficulties in neonates. Unusual features like high arched palate, gingival hypertrophy and malaligned teeth may rarely be present .In addition to these various other anomalies involving cardiovascular system, Central nervous system and genitourinary malformations may also be present. We present here a rare case of 3 day old neonate who presented with absence of external auditory canal, multiple accessory ear tags. Ophthalmological examination revealed dermiod cyst in the right eye. Other anomalies included genitourinary abnormalities like hypospadias and micropenis. In view of constellation of abnormalities baby was diagnosed to be having Goldenhar Syndrome. This was a rare case of goldenhar syndrome with urogenital anomalies.

Keywords: Goldenhar Syndrome, microtia, ocular dermoid, dilated pelvicalyceal system.