{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T15:25:33Z","timestamp":1793287533987,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,10,31]],"date-time":"2018-10-31T00:00:00Z","timestamp":1540944000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) describes a group of developmental disorders affecting the lungs with its pulmonary vasculature. Mutations in the <jats:italic>FOXF1<\/jats:italic> gene have been reported in most cases, and extrapulmonary findings were described. We present two patients with ACDMPV and <jats:italic>FOXF1<\/jats:italic> mutations that illustrate the variability in presentation and outcome of their disease. Patient 1 was a full\u2010term infant with imperforate anus and pulmonary hypertension. He required Extracorporeal Membrane Oxygenation on day of life (DOL) 3, and passed away on DOL 13 after no clinical improvement. Postmortem findings were consistent with ACDMPV. <jats:italic>FOXF1<\/jats:italic> testing revealed a heterozygous pathogenic frameshift de novo mutation, c.1057_1078dup, p.(Gly360Valfs*58). Patient 2 is a 6\u2010month\u2010old female, with a small omphalocele. She had intermittent retractions at 1\u2009week of age. She was admitted with pulmonary hypertension at 7\u2009weeks of age. Lung biopsy confirmed ACDMPV. <jats:italic>FOXF1<\/jats:italic> testing revealed a de novo, heterozygous likely pathogenic missense mutation c.253T&gt;C, p.(Phe85Leu]). Our two patients had different presentations, ages of onset, and progression of their disease. Our second patient had patchy lung involvement on biopsy, which may explain the relatively delayed onset and longer survival. ACDMPV is an important consideration for full\u2010term infants with worsening pulmonary hypertension early in life.<\/jats:p>","DOI":"10.1002\/ajmg.a.40641","type":"journal-article","created":{"date-parts":[[2018,10,31]],"date-time":"2018-10-31T17:05:19Z","timestamp":1541005519000},"page":"2877-2881","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Two patients with <i>FOXF1<\/i> mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8298-2196","authenticated-orcid":false,"given":"Aya","family":"Abu\u2010El\u2010Haija","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California San Francisco  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeff","family":"Fineman","sequence":"additional","affiliation":[{"name":"Division of Critical Care Medicine, Department of Pediatrics University of California San Francisco  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Connolly","sequence":"additional","affiliation":[{"name":"Department of Pathology University of California San Francisco  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priyanka","family":"Murali","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kaiser Permanente  San Jose California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke M.","family":"Judge","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics University of California San Francisco  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M.","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California San Francisco  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,10,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23213"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201010-1697CI"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200703-393OC"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/PCC.0b013e3181b80a75"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.888"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.13191"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00394.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-015-2543-3"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37660"},{"issue":"1","key":"e_1_2_6_11_1","first-page":"48","article-title":"Congenital alveolar dysplasia of the lungs","volume":"9","author":"MacMahon H. 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