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BMJ Case Reports 2012; doi:10.1136/bcr.12.2011.5291
  • Reminder of important clinical lesson

Di Sala syndrome

  1. Rashmi Kumar3
  1. 1Department of Radiodiagnosis and Imaging, Chhatrapati Shahuji Maharaj Medical University, Lucknow, Uttarpradesh, India
  2. 2Department of Ophthalmology, Chhatrapati Shahuji Maharaj Medical University, Lucknow, Uttarpradesh, India
  3. 3Department of Paediatrics, Chhatrapati Shahuji Maharaj Medical University, Lucknow, Uttarpradesh, India
  1. Correspondence to Dr Manoj Kumar, docmdeo{at}gmail.com

Summary

Di Sala syndrome or fetal warfarin syndrome/fetal warfarin embryopathy is a rare condition as result of fetal exposure due to maternal ingestion of warfarin during pregnancy. The authors report here a male infant with this condition whose mother was suffering from rheumatic mitral valvular heart disease for which she underwent prosthetic mitral valvular replacement surgery and put on injectable long acting penicillin and oral low-molecular weight anticoagulant drug (warfarin) for life long. The patient presented with facial dysmorphism, pectus excavatum, stippled epiphyses dolichocephaly, brachydactyly, polydactyly short neck and growth retardation. Shortened fourth metacarpal bones were also noted in this case which was not yet reported in literatures, to the best of our knowledge.

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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