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Dr. Andrew Rynne
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Dr. Andrew Rynne

Family Physician

Exp 50 years

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Article Home Children's Health OAV Spectrum

OAV Spectrum

It refers to the association of three rare disorders. These disorders are congenital occurring at birth. They involve malformations of eyes, ears, and spine. It is also known as Golden-Gorlin syndrome, OAVS

 

It is also known as first and second branchial arch syndrome, Facio-Auriculo-Vertebral spectrum, Oculo-Auriculo-Vertebral disorder (OAVD), Hemi facial Microsomia, Goldenhar syndrome.

OAVD represents mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemi facial microstomia is an intermediate form.

It is characterized by various forms of disorder and the severity varies from time to time. The disease is characterized by malformations of eyes, ears and spine.

It is associated with axial skeleton anomalies, eventration of the right hemi diaphragm, accessory spleen, unlobulated right lung, and agenesis of right kidney, right ovary and right uterine horn and partial agenesis of corpus callosum were found.

OAV spectrum

Features of OAV spectrum

  • Hemi facial microsomia: The face appear smaller on one side than the other
  • Malar hypoplasia: Underdevelopment of cheek bones.
  • Facial asymmetry: Face may appear dissimilar from one side to other.
  • Maxillary and mandibular hypoplasia: Underdevelopment of upper and lower jaws.
  • Temporal hypoplasia: Underdevelopment of lower part of skull.
  • Macrostomia: Incomplete development of muscles of face and abnormally wide mouth.
  • Cleft palate: Incomplete closure of roof of mouth.
  • Cleft lip: Abnormal groove in the upper lip.
  • Abnormalities of teeth.
  • Anotia: Absence of outer ears.
  • Microtia: Malformation of the outer ears.
  • Narrow, blind ending
  • Absent external ear canals.
  • Abnormal outgrowths of skin and cartilage on or in front of the ears (preauricular tags)
  • Microtia
  • Conductive or sensineural hearing loss.
  • Epibulbar dermoids and lipodermoids.
  • Coloboma: Partial absence of tissue from upper eye lids.
  • Microphthalmia: Small eye.
  • Blepharophimosis: Narrowing of eye lid folds between the upper and lower eye lids.
  • Strabismus: Crossing of eyes.