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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.