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CASE REPORT
The effects of microduplication 1q21.1 and in-utero isotretinoin exposure
  1. Sarah Kirsten Taylor1,
  2. Remy Toko2
  1. 1Sheffield Medical School, University of Sheffield, Sheffield, South Yorkshire, UK
  2. 2Department of Paediatrics, Hull and East Yorkshire Hospitals NHS Trust, Hull, UK
  1. Correspondence to Miss  Sarah Kirsten Taylor, hyskt1{at}hyms.ac.uk

Summary

The impact of in-utero isotretinoin exposure has been widely reported, with many affected pregnancies failing to reach term.1 2 Due to the low numbers of in-utero isotretinoin exposed pregnancies, the interactions between this drug and rare genetic defects such as microduplication 1q21.1 are unclear, particularly how they might manifest phenotypically. We present this case of in-utero isotretinoin exposure occurring in a child with microduplication 1q21.1. The child was born with congenital abnormalities which did not fit into a single syndrome. Regrettably in-utero exposure to isotretinoin continues to occur. We hope this case will trigger further discussion on the dangers of dispensing Isotretinoin without ensuring stringent pregnancy testing and its potential interaction with genetic abnormalities, in particular with microduplication 1q21.1.

  • Contraindications And Precautions
  • Drugs: Obstetrics And Gynaecology
  • Paediatrics

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Footnotes

  • Contributors SKT wrote the article under the guidance of RT. RT reviewed the article and made corrections and sought consent from the patient’s guardian.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.