Citation Information :
Kumar D, Gupta AK, Rai S, Sharma VP. Oculo-auriculovertebral Spectrum with Radial Anomaly: A Rare Case Report. Indian J Phy Med Rehab 2016; 27 (2):49-52.
Oculo-auriculovertebral spectrum (OAVS) or the Goldenhar syndrome is a rare developmental disorder with plethora of congenital anomalies which mostly affects structures arising from the first and the second branchial arches. The affected structures include cheekbone, jaws, mouth eyes, ear and vertebrae. The case which we are presenting here had classical features such as microsomia, unilateral microtia, microphthalmia and facial nerve palsy along with vertebral anomalies with additional signs as unilateral hearing loss and radial limb anomalies. OAVS with radial defect and limb abnormalities is a rare presentation and thus reported‥
Oculoauriculovertebral spectrum and cardiac malformations. Rev Assoc Med Bras 2010;56:62-6.
Goldenhar syndrome: case report. East Afr Med J 2002;79:502-4.
Am. J Ophthalmol 1973;75:250-7.
Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature. Eur J Hum Genet 2007;15:411-2.
Goldenhar syndrome: a case report. J Postgrad Med 1985;31:177-9.
Facio-auricular vertebral syndrome – a case report. Indian J Hum Genet 2005;11:156-8.
Infants and diabetic mothers are at risk for the oculoauriculo-vertebral sequence: a case based and casecontrol approach. J Pediatr 2002;141:611-7.
Goldenhar syndrome with unusual features. Indian J Dermatol Venerol Leprol 1999;65:143-4.
Multiple accessory tragi as a clue to the diagnosis of the auriculovertebral (Goldenhar) syndrome. J Am Acad Dermatol 2004;50:11-3.
Goldenhar-Gorlin's syndrome: a case report. Indian J Otolaryngol Head Neck Surg 2006;58:97-101.
Goldenhar syndrome associated with various cardiovascular malformations. Jnp Circ J 1998;62:617-20.
Oculoauriculo-vertebral spectrum (OAVS): clinical evaluation and scoring of 53 patients and proposal for a new classifi cation. Eur J Med Genet 2005;48:397-411.
