Oculoauriculovertebral spectrum and cerebral anomalies

J Med Genet. 1992 May;29(5):326-31. doi: 10.1136/jmg.29.5.326.

Abstract

We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate, anophthalmia/microphthalmia, or a cardiac defect. Mental retardation was found in five of the surviving 11 patients and early death occurred in one-third. We compared the cases with OAVS and hydrocephalus with published reports of OAVS and other cerebral anomalies and found no significant clinical differences. However, the clinical characteristics were clearly more severely expressed than generally found in patients with OAVS. Children with OAVS and more severe clinical features, especially anophthalmia/microphthalmia and cleft lip/palate, seem to be at an increased risk for cerebral malformations and for mental retardation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Female
  • Goldenhar Syndrome / complications*
  • Goldenhar Syndrome / genetics
  • Goldenhar Syndrome / pathology
  • Humans
  • Hydrocephalus / complications*
  • Hydrocephalus / genetics
  • Hydrocephalus / pathology
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male