Key result
Maternal warfarin exposure during pregnancy resulted in a male infant presenting with Di Sala syndrome, featuring facial dysmorphism, skeletal abnormalities, and shortened fourth metacarpal bones.
Case Report (n=1)
This case report describes a novel finding of shortened fourth metacarpal bones in an infant with fetal warfarin syndrome, expanding the known phenotypic spectrum of this teratogenic condition.
Expands recognition of skeletal anomalies in warfarin-exposed infants; single case extends phenotype but leaves confirmation to future studies.
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.
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Kumar et al. (2012) conducted a case report in Di Sala syndrome (fetal warfarin syndrome) (n=1). Maternal warfarin exposure was evaluated on Clinical presentation. Maternal warfarin exposure during pregnancy resulted in a male infant presenting with Di Sala syndrome, featuring facial dysmorphism, skeletal abnormalities, and shortened fourth metacarpal bones.
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