Oculo-auriculo-vertebral spectrum and maternal drug ingestion: cause or coincidence?

Abstract

Introduction

Oculo-auriculo-vertebral spectrum (OAVS) is aetiologically/pathogenetically a heterogeneous disorder. This study focuses on investigating of maternal drug intake during pregnancy in OAVS cases.

Materials and methods

Our sample was composed of 114 paediatric cases of OAVS. For each patient, an evaluation form seeking identity, medical history, pregnancy and family data, physical/dysmorphological findings and results from complementary tests was applied. Through the analysis of all the forms applied, the history of drug exposure/maternal diseases were retrospectively studied.

Results

The age of the population studied ranged between 1 month and 18 years, the majority being male. Regarding otological features, most had pinna involvement: microtia (86.6%); preauricular appendices (41.6%) and preauricular sinus (15.7%). External auditory canal atresia/stenosis was observed in 61.0% of the cases. Most had conductive hearing loss (75.5%) and imaging study revealed middle/inner ear malformations in 21.1% of the cases. Regarding nonotological characteristics, ophthalmological, osteoarticular and cardiac involvement were the 3 most frequently observed. Most cases had no evident cause for the development of anomalies (68.4%). However, in 16.7% a positive family history was identified. A history of drug intake has been elicited in 14.9% of the participants. The drugs intake during pregnancy found in our study were: isotretinoin, fluoxetine, oral contraceptives, levothyroxine, domperidone, enalapril, acyclovir and pseudoephedrine/triprolidine and gestational diabetes in need of treatment.

Conclusion

Some drugs are unquestionably associated with the development of malformation, such as isotretinoin, however, the other drugs cannot be underestimated, since their synergistic effect with other environmental agents and genetic background may be in the origin of OAVS.

Keywords:

• Oculo-auriculo-vertebral spectrum
• congenital abnormalities
• teratogenesis

Ethical approval

This Declaration takes effect upon acceptance of the Submission entitled ‘Oculo-Auriculo-Vertebral Spectrum and Maternal Drug Ingestion: Cause or Coincidence?’ for publication.

This study was carried out with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments, and as such with the authorization of the ethics committee of the Centro Hospitalar Universitário do Porto. We also have written consent signed by the legal guardians of the participants for the use of clinical information in this article, as well as its publication and disclosure in scientific journals.

Author contributions

Joana Raquel Costa: data collection, data analysis, article writing. Miguel Bebiano Coutinho: article writing. Teresa Soares: article review. Luís Meireles: article review.

Disclosure statement

This Declaration takes effect upon acceptance of the Submission entitled ‘Oculo-Auriculo-Vertebral Spectrum and Maternal Drug Ingestion: Cause or Coincidence?’ For publication.

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