Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency

Birth Defects Res A Clin Mol Teratol. 2005 Mar;73(3):188-93. doi: 10.1002/bdra.20123.


Background: Binder syndrome is a maxillonasal dysostosis characterized by midface and nasal hypoplasia, sometimes associated with short terminal phalanges of fingers and toes and transient radiological features of chondrodysplasia punctata. Warfarin- or phenytoin-induced vitamin K deficiency during early pregnancy is a well-established etiology for this syndrome, which occurs nevertheless sporadically in most cases.

Case(s): We describe here the first case, to our knowledge, of Binder syndrome in a child whose mother presented with biliary lithiasis in early pregnancy. The mother proved to have a decrease in clotting factors II, VII, and X, and in prothrombin time, at 11 weeks of gestation, which was highly suggestive of vitamin K deficiency.

Conclusions: The biliary lithiasis-induced vitamin K deficiency in early pregnancy is likely to have resulted in Binder syndrome. This observation should prompt physicians to carefully check for vitamin K deficiency in pregnant women presenting with biliary lithiasis, in order to prevent Binder syndrome in the fetus by providing intravenous vitamin K supplementation as soon as possible. Finally, reassuring genetic counseling regarding the genetic risk for future pregnancies is to be provided to the parents.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biliary Tract / metabolism
  • Biliary Tract / physiopathology*
  • Child, Preschool
  • Facial Bones / abnormalities*
  • Female
  • Foot Bones / abnormalities*
  • Foot Bones / diagnostic imaging
  • Hand Deformities / diagnostic imaging
  • Hand Deformities / physiopathology*
  • Humans
  • Lithiasis / metabolism
  • Lithiasis / physiopathology*
  • Pregnancy
  • Prenatal Exposure Delayed Effects*
  • Radiography
  • Vitamin K / metabolism*


  • Vitamin K