Vitamin K deficiency embryopathy

Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases

“…CDP can also be acquired and due to maternal exposures to teratogens and maternal diseases: a case suggestive of maternal vitamin K deficiency [Khau Van Kien et al, 1998] and maternal systemic lupus erythematosus (SLE). We present eight cases with maternal autoimmune conditions (4‐SLE, 3‐MCTD and a case with findings with scleroderma) associated with radiological fetal manifestation of CDP.…”

Phenocopy of Warfarin Syndrome in an Infant Born to a Mother With Sickle Cell Anemia and Severe Transfusional Iron Overload

“…The teratogenic period of vitamin K deficiency is believed to be between the 6th and 9th weeks of gestation. 4 In our patient's case, maternal liver dysfunction and decreased levels of factors II and X, and proteins C and S strongly indicate vitamin K deficiency. The mother did not take vitamin K supplementation, nor did she use any sort of anticoagulant agent, such as warfarin during pregnancy.…”

“…Causes of CDP include abnormalities of peroxisomal and cholesterol metabolisms, teratogen (phenytoin, warfarin) exposure in utero, maternal vitamin K deficiency secondary to intestinal malabsorption, celiac disease, short bowel syndrome, or bariatric surgery. [1][2][3][4][5] Although these disorders may present with epiphyseal stippling, some can be differentiated easily because of other unique clinical features (Table 1). Embryopathy due to warfarin, and other causes of vitamin K deficiency, is a well-described etiology of CDP.…”

“…Embryopathy due to warfarin, and other causes of vitamin K deficiency, is a well-described etiology of CDP. 3,4 Vitamin K deficiency can occur in the setting of severe hepatic hemosiderosis due to persistently high liver iron concentration and resulting liver damage. Here, we describe a newborn with CDP born to a woman with sickle cell anemia (SCA), demonstrating that women with SCA of childbearing capacity who have liver dysfunction due to iron overload from chronic transfusions can develop vitamin K deficiency, similar to that from warfarin use during pregnancy.…”

Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: A complication of hyperemesis gravidarum induced vitamin K deficiency?

“…Phenytoin and alcohol are thought to cause CDP by depleting maternal vitamin K and consequently fetal vitamin K [Leicher‐Duber et al, 1990; Howe et al, 1995]. Maternal diseases leading to fetal vitamin K deficiency can also cause a similar phenotype [Menger et al, 1997; Khau Van Kien et al, 1998; Eash et al, 2003; Jaillet et al, 2005]. Additionally, warfarin, fetal vitamin K deficiency, and vitamin K epoxide reductase deficiency have been associated with brain malformation [Kaplan, 1985; Menger et al, 1997; Van Driel et al, 2002; Puetz et al, 2004].…”