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


METHODS
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.
Jaillet
Jessica
J
Medical Genetics Unit, Debrousse Hospital, 29 rue Soeur Bouvier, 69322 Lyon cedex 05, France.
Robert-Gnansia
Elisabeth
E
Till
Marianne
M
Vinciguerra
Christine
C
Edery
Patrick
P
D001659:Biliary Tract / Q000378:metabolism / Q000503:physiopathology*; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005529:Foot Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006226:Hand Deformities / Q000000981:diagnostic imaging / Q000503:physiopathology*; D006801:Humans; D020347:Lithiasis / Q000378:metabolism / Q000503:physiopathology*; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects; D011859:Radiography; D014812:Vitamin K / Q000378:metabolism*
D014812:Vitamin K