The following ocular finding can be a pa of which syndrome?
Correct Answer: Goldenhar's syndrome
Description: 30% of patients who have epibulbar dermoids have other abnormalities. These most often consist of some or all of the features of Goldenhar's syndrome (Goldenhar-Gorlin syndrome, facioauriculoveebral sequence, oculoauriculoveebral dysplasia). Goldenhar's syndrome is the result of maldevelopment of the first and second branchial arches, which give rise to the maxilla, mandible, malar bone, auricle, and structures of the upper neck. The syndrome comprises a triad of findings: epibulbar (usually limbal) dermoids, abnormalities of the ear such as auricular appendages or pretragal fistulas, and anomalies of the veebral column. Other abnormalities that sometimes occur are:OcularColoboma of the upper eyelid; Uveal coloboma; Aniridia; Miliary retinal aneurysms; Duane's retraction strabismus syndrome; Lacrimal stenosis; MicrophthalmosSystemicMandibular and malar hypoplasia; Hemifacial microsomia; Other facial and oral abnormalities; Cardiac abnormalities; Renal abnormalities; Gastrointestinal abnormalities; Genitourinary abnormalities; Mental retardationRef. Smolin and Thofts; The cornea; 4th edition; Pg.No. 715
Category:
Ophthalmology
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