Teratogen exposure and congenital ocular abnormalities in Brazilian patients with Möbius sequence

Abstract

Purpose: To assess the sociodemographic profiles, teratogen exposures, and ocu lar congenital abnormalities in Brazilian patients with Möbius sequence. Method: Forty-four patients were recruited from the Brazilian Möbius Sequence Society. This cross-section comprised 41 patients (age, mean ± standard deviation, 9.0 ± 5.5 years) who fulfilled the inclusion criteria. The parent or caregiver answered a questionnaire regarding sociodemographic data and pregnancy history. Patients underwent ophthalmological assessments. They were subdivided into groups according to misoprostol exposure during pregnancy, and the two groups were compared. Results: Mothers/caregivers reported unplanned pregnancies in 36 (88%) cases. Of these, 19 (53%) used misoprostol during their first trimesters. A stable marital status tended to be more frequent in the unexposed group (P=0.051). Incomplete elementary school education was reported by two (11%) mothers in the exposed group and by three (14%) mothers in the unexposed group (P=0.538). The mothers' gestational exposures to cocaine, marijuana, alcohol, and cigarettes were similar in both groups (P=0.297, P=0.297, P=0.428, and P=0.444, respectively). One (5%) case of Rubella infection during pregnancy was found in the unexposed group. The main malformations in the exposed and unexposed groups were the following: strabismus (72% and 77%, respectively), lack of emotional tearing (47% and 36%, respectively), and lagophthalmos (32% and 41%, respectively). Conclusions: Stable marital statuses tended to be more frequent among mothers that did not take misoprostol during pregnancy. Exposures to other teratogens and the main ocular abnormalities were similar in both groups. (P=0,297, P=0,297, P=0,428, P=0,444, respectivamente The use of abortive medications, such as misoprostol and certain herbal teas, are common in these countries (7,8) and are associated with congenital anomalies (7,(9)(10)(11) . Möbius sequence is a rare congenital disorder with an estimated prevalence in the general population of 1:500 to 1:5,000 newborns (7,12) . Although most cases are sporadic and some have been re- lated to genetic mutations (13)(14)(15) , intrauterine exposure to misoprostol and other teratogens has been associated with its occurrence (16)(17)(18)(19)(20)(21) . The aim of the present study was to report the sociodemographic profiles, teratogen exposures, and congenital abnormalities in patients with Möbius sequence. Keywords METHODSThis cross-sectional study followed the tenets of the Declaration of Helsinki and was approved by the Ethics Committee on Human Research of the Santa Casa de Misericórdia of São Paulo. Each patient and/or caregiver gave written informed consent before being included in the study. The data used in this study were collected by a multidisciplinary team from several institutions from North America (University of Illinois, Chicago) The Brazilian Möbius Syndrome Society is an association in southeastern Brazil for patients with Möbius sequence. The patients were recruited b...

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