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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis

Journal of Perinatology volume 33, pages 401–403 (2013)Cite this article

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An Erratum to this article was published on 30 January 2014

Abstract

We report the case of a newborn with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), a rare condition of unknown etiology presenting in the neonatal period with significant persistent pulmonary hypertension. The diagnosis was made by lung biopsy and confirmed at autopsy. Specific genetic analysis demonstrated defects in the FOXF1 gene. The diagnosis of ACD/MPV requires a high level of suspicion and is made by lung biopsy or necropsy examination by a pediatric pathologist with experience in this condition. The availability of genetic testing has led to increasing diagnosis of patients with this lethal disorder and can influence their management, specifically by indicating the need for lung biopsy in a critically ill newborn.

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Acknowledgements

We gratefully acknowledge the support of the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston, where molecular diagnosis of our patient was performed, especially Dr Claire Langston, and the support of the Department of Pediatrics-Nutrition at Baylor College of Medicine, particularly Dr Partha Sen.

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Authors and Affiliations

  1. Neonatology Department, Hospital Universitari Vall d’Hebron, Barcelona, Spain

    Y Castilla-Fernandez, C Copons-Fernández, R Jordan-Lucas, Á Linde-Sillo & F Castillo-Salinas

  2. Genetic Unit, Hospital Universitari Vall d’Hebron, Barcelona, Spain

    I Valenzuela-Palafoll

  3. Pathology Department, Hospital Universitario Vall d’Hebron, Barcelona, Spain

    J C Ferreres Piñas

  4. Pediatric Pulmonology Department, Hospital Universitario Vall d’Hebron, Barcelona, Spain

    A Moreno-Galdó

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  1. Y Castilla-Fernandez
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  2. C Copons-Fernández
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Correspondence to Y Castilla-Fernandez.

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Castilla-Fernandez, Y., Copons-Fernández, C., Jordan-Lucas, R. et al. Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis. J Perinatol 33, 401–403 (2013). https://doi.org/10.1038/jp.2012.63

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  • DOI: https://doi.org/10.1038/jp.2012.63

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