• G C Geddes, D P Dimmock, D A Hehir, D C Helbling, E Kirkpatrick, R Loomba, J Southern, M Waknitz, G Scharer, and G G Konduri.
• 1] Department of Pediatrics and Children's Research Institute of Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA [2] Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.
• J Perinatol. 2015 Feb 1; 35 (2): 155-7.

AbstractAlveolar capillary dysplasia (ACD) is a rare and lethal cause of hypoxic respiratory failure in the neonate. Here we describe a term neonate with ACD that was found with a previously unreported p.Arg86Pro mutation in the FOXF1 (Forkhead Box-F1) gene and coexisting congenital anomalies, including colobomas of the iris and hemihyperplasia. This unique clinical presentation may indicate a novel, yet unconfirmed disease association for mutations in the FOXF1 gene. Rapid mutation analysis in FOXF1 may provide noninvasive early confirmation of ACD in neonates with respiratory failure and can aid in clinical decision making.

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