Dr. Manisha Nagpal, N16935, Dr. Zia Chaudhuri
GS, also known as oculo-auriculo-vertebral dysplasia (OAV) is a rare developmental anomaly, which consists of a triad of facial asymmetry, eye and ENT anomalies like ocular dermoid cyst, preauricular skin tags and vertebral dysplasia. This study reports a 5-year-old male child who presented with painless white growth in the conjunctiva of both eyes (BE) with left hemifacial microsomia since birth. Detailed antenatal, postnatal and developmental history and systemic and ophthalmological evaluation revealed preauricular tags underneath the right external ear, short neck with X-ray demonstrating cervical fusion, scoliosis on the left side and bony prominence on the patient chest, thus confirming the diagnosis of GS. Ocular findings comprised 2 limbal dermoids in the right eye, 1 in left eye and hypermetropia (+3 DS) BE. Other extremely unusual systemic findings included renal agenesis on the side of the scoliosis, probably as a result of more crowding on that side as also polysplenia.