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

American Journal of Medical Genetics

Volumn 72, Issue 2, 1997, Pages 129-134

  Menger, Hartmut ^a   Lin, Angela E ^b   Toriello, Helga V ^c   Bernert, Günter ^d   Spranger, Jürgen W ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b University Children's Hospital   (United States)

^c SPECTRUM HEALTH   (United States)

^d ST ANNA CHILDREN S HOSPITAL   (Austria)

Author keywords

Chondrodysplasia punctata; Dandy Walker malformation; Epiphyseal stippling; Malabsorption; Nasal hypoplasia; Pseudo warfarin embryopathy; Spinal malformation

Indexed keywords

OXIDOREDUCTASE; VITAMIN K GROUP;

ARTICLE; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; CONGENITAL CATARACT; DANDY WALKER SYNDROME; ENZYME DEFICIENCY; FEMALE; HUMAN; NEWBORN; NOSE MALFORMATION; PRIORITY JOURNAL; VITAMIN K DEFICIENCY; VITAMIN METABOLISM;

ABNORMALITIES, DRUG-INDUCED; ANTICOAGULANTS; CHILD, PRESCHOOL; CHONDRODYSPLASIA PUNCTATA; FEMALE; FETAL DISEASES; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALABSORPTION SYNDROMES; PREGNANCY; PREGNANCY COMPLICATIONS; VITAMIN K; VITAMIN K DEFICIENCY; WARFARIN;

EID: 0030798976     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971017)72:2<129::AID-AJMG2>3.0.CO;2-Q     Document Type: Article

References (11)

1. Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A (1995): A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81:15-25.
2. Hall JG, Pauli RM, Wilson KM (1980): Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med 68:122-140.
3. Howe AM, Webster WS (1994): Vitamin K - its essential role in craniofacial development. A review of the literature regarding vitamin K and craniofacial development. Aust Dent J 39:88-92.
4. Pauli RM (1988): Mechanism of bone and cartilage development in the warfarin embryopathy. Pathol Immunopathol Res 7:107-112.
5. Pauli RM, Haun JM (1993): Intrauterine effects of coumarin derivatives. Dev Brain Dysfunct 6:229-247.
6. Pauli RM, Lian JB, Mosher DF, Suttie JW (1987): Association of congenial deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: Clues to the mechanism of teratogenicity of coumarin derivatives. Am J Hum Genet 41:566-583.
7. Shearer MJ (1990): Annotation. Vitamin K and vitamin K-dependent proteins. Br J Haematol 75:156-162.
8. Toriello HV, Lin A, Higgins JV (1991): Conditions with stippled epiphyses: Two new syndromes/situations and a review of the literature. Proc Greenwood Genet Cent 10:113-114.
9. Vermeer C (1990): Review article: Gamma-carboxyglutamate-containing proteins and the vitamin K-dependent carboxylase. Biochem J 266: 625-636.
10. Vermeer C, Hamulyák K (1991): Pathophysiology of vitamin K-deficiency and oral anticoagulants. Thromb Haemost 66:153-159.
11. Wulfsberg EA, Curtis J, Jayne CH (1992): Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders. Am J Med Genet 43:823-828.