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.