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Case Reports
Journal Article
Late Recognition of a Case of Oculo-Auriculo-Vertebral Spectrum.
Optometry and Vision Science : Official Publication of the American Academy of Optometry 2016 November
PURPOSE: To report the late recognition of a case oculo-auriculo-vertebral spectrum (OAVS).
CASE REPORT: A 14-year-old male patient with a history of spinal scoliosis and anal atresia presented with a right ocular growth that was increasing in size and causing irritation. He was discovered to have a right limbal dermoid and forniceal lipodermoid. All visual functions were normal and the rest of the anterior and posterior segments were unremarkable. External examination revealed facial asymmetry and ipsilateral hemifacial microsomia and a pre-auricular skin tag. A diagnosis of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome was made.
CONCLUSIONS: Growth of a limbal dermoid helped identify oculo-auriculo-vertebral spectrum, a disorder with a wide phenotypic spectrum that can affect all systems. Early recognition and syndromic designation is imperative; full pediatric survey of suspected cases will help rule out the life-threatening manifestations of the spectrum.
CASE REPORT: A 14-year-old male patient with a history of spinal scoliosis and anal atresia presented with a right ocular growth that was increasing in size and causing irritation. He was discovered to have a right limbal dermoid and forniceal lipodermoid. All visual functions were normal and the rest of the anterior and posterior segments were unremarkable. External examination revealed facial asymmetry and ipsilateral hemifacial microsomia and a pre-auricular skin tag. A diagnosis of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome was made.
CONCLUSIONS: Growth of a limbal dermoid helped identify oculo-auriculo-vertebral spectrum, a disorder with a wide phenotypic spectrum that can affect all systems. Early recognition and syndromic designation is imperative; full pediatric survey of suspected cases will help rule out the life-threatening manifestations of the spectrum.
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