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      Expanding the phenotype of alveolar capillary dysplasia (ACD)

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      The Journal of Pediatrics
      Elsevier BV

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          Abstract

          To define the phenotype of congenital alveolar capillary dysplasia (ACD) as a first step toward mapping the responsible gene(s). Analysis of pathology reports and microscopic slides of 23 subjects with ACD and sequence analysis of two candidate genes. Our review of the pre- and postmortem records delineates both the natural history of this condition and the associated anomalies. Our collection of families corroborates the likely autosomal recessive nature of this condition in some families and provides additional data for genetic and prenatal counseling. Anomalies of many organ systems were detected either in the prenatal period or during the hospital course. However, some major anomalies were not detected until postmortem examination. Left-right asymmetry and gastrointestinal malrotation emerge as important, previously recognized but underappreciated phenotypic features of ACD. Finally, we used sequence analysis to exclude mutations in the coding region of two candidate genes, bone morphogenetic protein type II receptor (BMPR2) and endothelial monocyte-activating polypeptide II (EMAP II), as candidates for ACD. Understanding the clinical spectrum of ACD and the cloning of an "ACD gene" both have implications for counseling, for prenatal testing, and for understanding the molecular pathophysiology of ACD and other organ malformations that are associated with this condition.

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          Author and article information

          Journal
          The Journal of Pediatrics
          The Journal of Pediatrics
          Elsevier BV
          00223476
          November 2004
          November 2004
          : 145
          : 5
          : 646-651
          Article
          10.1016/j.jpeds.2004.06.081
          15520767
          fe2c9568-ed49-4b95-994d-b8b2b93acb35
          © 2004

          http://www.elsevier.com/tdm/userlicense/1.0/

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