The effects of microduplication 1q21.1 and in-utero isotretinoin exposure

BMJ Case Rep. 2017 Nov 4:2017:bcr2017219311. doi: 10.1136/bcr-2017-219311.

Abstract

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.

Keywords: Contraindications And Precautions; Drugs: Obstetrics And Gynaecology; Paediatrics.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Drug-Induced / diagnosis
  • Abnormalities, Drug-Induced / diagnostic imaging
  • Abnormalities, Drug-Induced / genetics*
  • Cleft Lip / chemically induced
  • Cleft Lip / diagnosis*
  • Cleft Lip / diagnostic imaging
  • Cleft Palate / chemically induced
  • Cleft Palate / diagnosis*
  • Cleft Palate / diagnostic imaging
  • Diagnosis, Differential
  • Female
  • Fingers / abnormalities
  • Humans
  • Infant
  • Isotretinoin / toxicity*
  • Magnetic Resonance Imaging
  • Pregnancy
  • Prenatal Exposure Delayed Effects
  • Syndactyly / chemically induced
  • Syndactyly / diagnosis*
  • Syndactyly / diagnostic imaging
  • Teratogens / toxicity*
  • Toes / abnormalities

Substances

  • Teratogens
  • Isotretinoin