Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism

Am J Med Genet. 1997 Oct 17;72(2):129-34.


Three unrelated infants presented with radiographic punctate calcifications, nasal hypoplasia, and abnormalities of the spine. Additional anomalies included cupped ears in 2 patients and one each with Dandy-Walker malformation with hydrocephaly, congenital cataracts, and peripheral pulmonary artery stenosis. The mothers of these 3 patients had chronic conditions associated with intestinal malabsorption requiring total parenteral nutrition for varying periods of time. The underlying causes of malabsorption were celiac disease, short bowel syndrome secondary to surgical resection, and jejuno-ileal bypass, respectively. Bleeding diathesis occurred in one mother requiring vitamin K supplementation during the second and third trimesters of pregnancy. We speculate that the chondrodysplasia punctata and other abnormalities in these children were caused by an acquired maternal vitamin K deficiency manifested during early pregnancy. However, the involvement of other vitamin deficiencies cannot be excluded. Thus, vitamin K deficiency of the embryo secondary to maternal malabsorption appears to be a third vitamin K-related mechanism leading to chondrodysplasia punctata in addition to warfarin embryopathy and epoxide reductase deficiency (pseudo-warfarin embryopathy).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Drug-Induced / diagnostic imaging
  • Abnormalities, Drug-Induced / etiology*
  • Abnormalities, Drug-Induced / pathology
  • Anticoagulants / adverse effects*
  • Child, Preschool
  • Chondrodysplasia Punctata / diagnostic imaging
  • Chondrodysplasia Punctata / etiology
  • Chondrodysplasia Punctata / pathology
  • Female
  • Fetal Diseases / etiology*
  • Fetal Diseases / metabolism
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Malabsorption Syndromes / complications*
  • Pregnancy
  • Pregnancy Complications*
  • Radiography
  • Vitamin K / metabolism
  • Vitamin K Deficiency / etiology*
  • Warfarin / adverse effects*


  • Anticoagulants
  • Vitamin K
  • Warfarin