Assessing Environmental Risks Factors in Anorectal Malformations: Case Report and Literature Review

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2025-02-18 DOI:10.1002/bdr2.2445

Claudia Ortiz-Fernandez, Ferran Campillo i López, Stephan Otto Schneider, Bernardo Núñez, Anton Foguet i Vidal

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Abstract

Introduction

Anorectal malformations are birth defects that affect 1 in 5000 live births. Despite the research, the cause is still unknown, but genetic and environmental factors have been described to contribute to its pathogenesis. We report the case of a child with an anterior ectopic anus in which prenatal environmental factors were systematically assessed using a screening evaluation interview, the Green Page, and a complete Pediatric Environmental History.

Case

A first born of a 29 year old woman with a history of epilepsy treated with high doses of lamotrigine, levetiracetam, and clobazam, and a subclinical hypothyroidism treated with levothyroxine. Periconceptional supplementation with 400mcg of folic acid, maternal and paternal smoking habit, and some occupational exposures to chemical hazards. No personal or family history of congenital malformations.

Discussion

Some previously related environmental factors were found, such as mother's epilepsy, high lamotrigine dose, tobacco exposure, air pollution, and in a lesser risk the use of levothyroxine. The Green Page and the Pediatric Environmental History could contribute to identifying and reducing environmental risks related to birth defects.

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.