VITAMIN-K DEFICIENCY EMBRYOPATHY - A PHENOCOPY OF THE WARFARIN EMBRYOPATHY DUE TO A DISORDER OF EMBRYONIC VITAMIN-K METABOLISM

Three unrelated infants presented with radiographic punctate calcifica tions, nasal hypoplasia, and abnormalities of the spine, Additional an omalies included cupped ears in 2 patients and one each with Dandy-Wal ker malformation with hydrocephaly, congenital cataracts, and peripher al pulmonary artery stenosis, The mothers of these 3 patients had chro nic conditions associated with intestinal malabsorption requiring tota l parenteral nutrition for varying periods of time, The underlying cau ses of malabsorption were celiac disease, short bowel syndrome seconda ry to surgical resection, and jejuno-ileal bypass, respectively, Bleed ing diathesis occurred in one mother requiring vitamin K supplementati on during the second and third trimesters of pregnancy, We speculate t hat the chondrodysplasia punctata and other abnormalities in these chi ldren were caused by an acquired maternal vitamin K deficiency manifes ted during early pregnancy, However, the involvement of other vitamin deficiencies cannot be excluded, Thus, vitamin K deficiency of the emb ryo secondary to maternal malabsorption appears to be a third vitamin K-related mechanism leading to chondrodysplasia punctata in addition t o warfarin embryopathy and epoxide reductase deficiency (pseudo-warfar in embryopathy). (C) 1997 Wiley-Liss, Inc.