title: A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins.
abstract: 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.
  
  
  CONCLUSIONS
  We report the longest survivor of ACD/MPV. The mild phenotype is most likely due to the patient's residual normal lung tissue.
authors.affiliation: Department of Pediatrics, Teine Keijinkai Hospital, 1-Jo, 12-1-40, Maeda, Teine-Ku, Sapporo, Hokkaido, 006-8555, Japan, yukieito@hotmail.co.jp.
authors.forename: Yukie
authors.initials: Y
authors.lastname: Ito
authors.forename: Takuma
authors.initials: T
authors.lastname: Akimoto
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Cho
authors.forename: Masafumi
authors.initials: M
authors.lastname: Yamada
authors.forename: Mishie
authors.initials: M
authors.lastname: Tanino
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Dobata
authors.forename: Masanori
authors.initials: M
authors.lastname: Kitaichi
authors.forename: Satoru
authors.initials: S
authors.lastname: Kumaki
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Kinugawa
mesh_terms: D051858:Forkhead Transcription Factors / Q000235:genetics*; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology*; D008297:Male; D010547:Persistent Fetal Circulation Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed
chemical_list: C098521:FOXF1 protein, human; D051858:Forkhead Transcription Factors