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Late Recognition of a Case of Oculo-Auriculo-Vertebral Spectrum
Jeylan El Mansoury1, Joyce N Mbekeani
1*MD, PhD †MD, FRCS, FRCOphth Department of Ophthalmology, King Faisal Specialist Hospital & Research Center, Riyadh, Kingdom of Saudi Arabia (JEM); Department of Surgery, North Bronx Health Network, Bronx, New York (JNM); and Department of Ophthalmology and Visual Sciences, Albert Einstein College of Medicine of Yeshiva University, Bronx, New York (JNM).
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.
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