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Case Report
Antenatal imaging of retinoic acid embryofetopathy: A case report and review of literature
1 Department of Medicine, Cheikh Anta Diop University of Dakar, Dakar, Senegal
2 Obstetrics and Gynecology Department, National Hospital Center Dalal Jamm, Dakar, Senegal
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Mame Diarra Ndiaye
Cheikh Anta Diop University of Dakar, Dalal Jamm National Hospital Center; Dakar,
Senegal
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Article ID: 100190Z08MN2025
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Ndiaye MD, Leye M, Sall NR, Cisse L, Gueye M. Antenatal imaging of retinoic acid embryofetopathy: A case report and review of literature. J Case Rep Images Obstet Gynecol 2025;11(1):1–5.ABSTRACT
Isotretinoin is a derivative of vitamin A that has been implicated in the occurrence of fetal abnormalities since the 1980s. The reported abnormalities involve the heart, face, and central nervous system. All of the described malformations have been identified postnatally. This case describes prenatal imaging of an embryofetopathy. The patient was a 29-year-old primigravida. She had a history of acne treated with isotretinoin. After missing 3 contraceptives pills, she experienced amenorrhea. An ultrasound performed at 22 weeks of gestation revealed cerebellar vermis agenesis, thymus aplasia, agenesis of pulmonary valves, and ear abnormalities. This is the first time that pulmonary valve agenesis has been described within the spectrum of isotretinoin-related malformations. Pulmonary agenesis was the only conotruncal heart defect not yet described in isotretinoin embryopathy. From this observation, we can recommend an investigation of isotretinoin exposure in any case of conotruncal heart defect without 22q11 deletion.
Keywords: Birth defects, Embryofetopathy, Isotretinoin, Ultrasound imaging
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Author Contributions
Mame Diarra Ndiaye - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Mohamed Leye - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Ndèye-Racky Sall - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Lissoune Cisse - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Mamour Gueye - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2025 Mame Diarra Ndiaye et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
