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Related Experiment Videos

Oculoauriculovertebral spectrum and cerebral anomalies.

C T Schrander-Stumpel1, C E de Die-Smulders, R C Hennekam

  • 1Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.

Journal of Medical Genetics
|May 1, 1992
PubMed
Summary

Oculoauriculovertebral spectrum (OAVS) with hydrocephalus presents with severe clinical features, including brain abnormalities and developmental delays. Early recognition of severe OAVS symptoms is crucial for predicting associated risks.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Neurology

Background:

  • Oculoauriculovertebral spectrum (OAVS) is a congenital disorder affecting craniofacial development.
  • Hydrocephalus, the buildup of fluid in the brain, can occur alongside OAVS.
  • Understanding the co-occurrence and clinical spectrum of OAVS and hydrocephalus is essential for patient management.

Observation:

  • Three Dutch children diagnosed with OAVS and hydrocephalus were studied.
  • Clinical features were compared with 15 previously reported cases of OAVS and hydrocephalus.
  • The study observed significant cerebral abnormalities in all patients.

Findings:

  • Half of the cases exhibited cleft lip/palate, anophthalmia/microphthalmia, or cardiac defects.

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  • Mental retardation was present in 5 of 11 surviving patients, with a one-third mortality rate.
  • OAVS cases with hydrocephalus showed more severe clinical manifestations than typical OAVS.

    • Implications:

    • Severe OAVS, particularly with anophthalmia/microphthalmia and cleft lip/palate, indicates a higher risk of cerebral malformations.
    • Increased risk for developmental delays and intellectual disability in children with severe OAVS and hydrocephalus.
    • Further research is needed to elucidate the underlying mechanisms and improve therapeutic strategies for OAVS-associated conditions.