Di Sala syndrome

BMJ Case Rep. 2012 Mar 20:2012:bcr1220115291. doi: 10.1136/bcr.12.2011.5291.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Drug-Induced / etiology*
  • Abnormalities, Multiple / chemically induced*
  • Anticoagulants / adverse effects*
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Male
  • Pregnancy
  • Prenatal Exposure Delayed Effects
  • Syndrome
  • Warfarin / adverse effects*

Substances

  • Anticoagulants
  • Warfarin