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.
Original language | English (US) |
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Journal | Journal of Pediatric Hematology/Oncology |
Volume | 35 |
Issue number | 6 |
DOIs | |
State | Published - Aug 2013 |
Externally published | Yes |
Keywords
- choanal atresia
- embryopathy
- epiphyseal stippling
- iron overload
- pregnancy
- sickle cell disease
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Oncology
- Hematology