Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia

Clin Case Rep. 2017 Mar 13;5(5):559-566. doi: 10.1002/ccr3.888. eCollection 2017 May.


Alveolar capillary dysplasia (ACD) is a rare condition with variable presentation and clinical course. Clinicians should consider this diagnosis in neonates presenting with nonlethal congenital gastrointestinal malformation, a period of well-being after birth then unremitting hypoxemia and refractory pulmonary hypertension. Lung biopsy and FOXF1 gene testing may help in diagnosis.

Keywords: Alveolar capillary dysplasia; FOXF1 gene; gastrointestinal malformation; misaligned pulmonary vein; pulmonary hypertension.

Publication types

  • Case Reports