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Di Sala syndrome.

Manoj Kumar1, Shashi Kumar Bhasker, Ragini Singh

  • 1Department of Radiodiagnosis and Imaging, Chhatrapati Shahuji Maharaj Medical University, Lucknow, Uttarpradesh, India. docmdeo@gmail.com

BMJ Case Reports
|May 19, 2012
PubMed
Summary
This summary is machine-generated.

Di Sala syndrome, a rare fetal warfarin syndrome, occurs from maternal warfarin use during pregnancy. This case highlights characteristic features and a novel finding of shortened fourth metacarpals.

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Area of Science:

  • Medical Genetics
  • Teratology
  • Pharmacology

Background:

  • Di Sala syndrome, also known as fetal warfarin syndrome or embryopathy, is a rare condition resulting from prenatal exposure to warfarin.
  • Maternal warfarin use during pregnancy, particularly for conditions like prosthetic heart valves, poses a significant risk for fetal development.

Observation:

  • A male infant presented with a constellation of Di Sala syndrome features, including facial dysmorphism, pectus excavatum, stippled epiphyses, dolichocephaly, brachydactyly, polydactyly, short neck, and growth retardation.
  • The infant's mother had rheumatic mitral valvular heart disease, necessitating prosthetic valve replacement and lifelong anticoagulation with warfarin.

Findings:

  • The case confirmed typical manifestations of fetal warfarin syndrome.
  • Notably, shortened fourth metacarpal bones were observed, a feature not previously documented in the literature for this condition.

Implications:

  • This case expands the known phenotypic spectrum of Di Sala syndrome.
  • It underscores the critical need for careful management of warfarin therapy in pregnant women and highlights potential teratogenic effects.
  • Further research may elucidate the specific mechanisms behind the shortened fourth metacarpal finding.