期刊
EUROPEAN JOURNAL OF PEDIATRICS
卷 174, 期 8, 页码 1123-1126出版社
SPRINGER
DOI: 10.1007/s00431-015-2543-3
关键词
ACD/MPV; FOXF1; Mild phenotype; CT; Biopsy
类别
资金
- Grants-in-Aid for Scientific Research [15K08359] Funding Source: KAKEN
This report demonstrates a late presenter and long-term survivor (38 months old) of alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) and with a heterozygous frameshift mutation in FOXF1. The mild phenotype may be due to his residual normal lung tissue as demonstrated in the chest computed tomography (CT) and histopathological findings. Conclusion: We report the longest survivor of ACD/MPV. The mild phenotype is most likely due to the patient's residual normal lung tissue.
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