Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors

Am J Med Genet A. 2007 Jun 15;143A(12):1317-25. doi: 10.1002/ajmg.a.31769.


Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.

MeSH terms

  • Adolescent
  • Cerebrum / abnormalities
  • Child
  • Child, Preschool
  • Ear / abnormalities
  • Eye Abnormalities / pathology
  • Feeding and Eating Disorders / pathology*
  • Female
  • Goldenhar Syndrome / genetics
  • Goldenhar Syndrome / pathology*
  • Heart Defects, Congenital / pathology
  • Humans
  • Infant
  • Intellectual Disability / pathology*
  • Male
  • Neuropsychological Tests
  • Prospective Studies
  • Risk Factors
  • Sensation Disorders / pathology*
  • Speech Disorders / pathology*
  • Spine / abnormalities
  • Sweden