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- Also called Oculoauriculovertebral dysplasia or Branchial arch syndrome.
- Characterized by multiple anomalies of the ocular, cardiac, skeletal and central nervous system.
- Ten percent of those affected are mentally retarded.
- Classic triad of the syndrome includes:
- Hemifacial microsomia
- Epibulbar dermoids or dermolipomas
- Deformity of the ears with pre-auricular appendages.
- Associated malformations include orbital hypoplasia, upper lid colobomas, nasolacrimal duct obstruction, strabismus, iris coloboma, persistent papillary membrane, hypoplasia of the pinna, absent external auditory meatus, fusion of cervical vertebrae, renal agenesis and multicystic kidney.