title: Phenocopy of warfarin syndrome in an infant born to a mother with sickle cell anemia and severe transfusional iron overload.
abstract: Neonatal chondrodysplasia punctata (CDP) is characterized by epiphyseal stippling and midfacial hypoplasia. CDP is usually inherited, but can be acquired because of maternal vitamin K deficiency. We describe an infant with CDP born to a teenager with sickle cell anemia and transfusional iron overload. The mother had severe liver fibrosis, elevated liver iron concentration (34 mg Fe/g), and coagulopathy, but no gestational use of warfarin. Fetal abnormalities were attributed to vitamin K deficiency secondary to liver dysfunction from iron toxicity. Treatment of iron overload among women with sickle cell anemia of childbearing potential is important to avoid possible CDP in newborns.
authors.affiliation: Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38105-3678, USA.
authors.forename: Yi
authors.initials: Y
authors.lastname: Xie
authors.forename: Eniko K
authors.initials: EK
authors.lastname: Pivnick
authors.forename: Harris L
authors.initials: HL
authors.lastname: Cohen
authors.forename: Patricia E
authors.initials: PE
authors.lastname: Adams-Graves
authors.forename: Massroor
authors.initials: M
authors.lastname: Pourcyrous
authors.forename: Banu
authors.initials: B
authors.lastname: Aygun
authors.forename: Jane S
authors.initials: JS
authors.lastname: Hankins
mesh_terms: D000014:Abnormalities, Drug-Induced; D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000628:therapy; D002806:Chondrodysplasia Punctata / Q000151:congenital* / Q000209:etiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D019190:Iron Overload / Q000150:complications*; D008107:Liver Diseases / Q000209:etiology; D008297:Male; D009295:Nasal Bone / Q000002:abnormalities; D011247:Pregnancy; D011248:Pregnancy Complications / Q000209:etiology* / Q000473:pathology; D065227:Transfusion Reaction; D014813:Vitamin K Deficiency / Q000150:complications; D014859:Warfarin / Q000009:adverse effects
chemical_list: D014859:Warfarin