{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T05:05:51Z","timestamp":1789103151059,"version":"build-2803163510"},"reference-count":31,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int. J. Mol. Sci.","IJMS"],"abstract":"<jats:p>St\u00fcve\u2013Wiedemann syndrome (SWS) is an ultra-rare autosomal recessive skeletal dysplasia caused by loss-of-function variants in the leukemia inhibitory factor receptor (LIFR) gene. While characterized by bone deformities and dysautonomia, severe persistent pulmonary hypertension of the newborn (PPHN) significantly contributes to high early mortality. We report a neonate with genetically confirmed SWS who presented with severe, suprasystemic PPHN refractory to standard pulmonary vasodilators, including inhaled nitric oxide. This case provides a detailed longitudinal hemodynamic characterization of severe suprasystemic PPHN in genetically confirmed SWS, including serial assessment of pulmonary pressures, shunt direction, and right ventricular function during treatment. Rather than identifying PPHN as a novel manifestation of SWS, it extends the phenotypic and hemodynamic characterization of pulmonary vascular involvement in this rare disorder.<\/jats:p>","DOI":"10.3390\/ijms27177824","type":"journal-article","created":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T09:48:36Z","timestamp":1788256116000},"page":"7824","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Severe Suprasystemic Refractory Pulmonary Hypertension in a Neonate with St\u00fcve\u2013Wiedemann Syndrome Associated with Biallelic LIFR Variants: Molecular Insights and a Neonatal Case Report"],"prefix":"10.3390","volume":"27","author":[{"given":"Karolina","family":"Chojnacka","sequence":"first","affiliation":[{"name":"Neonatal Biophysical Monitoring and Cardiopulmonary Therapies Research Unit, II Department of Neonatology, Poznan University of Medical Sciences, 61-701 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8905-7921","authenticated-orcid":false,"given":"Greta","family":"Sibrecht","sequence":"additional","affiliation":[{"name":"Neonatal Biophysical Monitoring and Cardiopulmonary Therapies Research Unit, II Department of Neonatology, Poznan University of Medical Sciences, 61-701 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2898-4190","authenticated-orcid":false,"given":"Karolina","family":"Gruca-Stryjak","sequence":"additional","affiliation":[{"name":"Department of Perinatology, Gynecology and Obstetrics, Poznan University of Medical Sciences Clinical Hospital, 60-535 Poznan, Poland"},{"name":"Genesis Medical Genetics Center, 60-529 Poznan, Poland"},{"name":"Department of Perinatology, Obstetrics and Gynecology, Polish Mother\u2019s Memorial Hospital Research Institute, 93-338 \u0141\u00f3d\u017a, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5214-2719","authenticated-orcid":false,"given":"Tomasz","family":"Szczapa","sequence":"additional","affiliation":[{"name":"Neonatal Biophysical Monitoring and Cardiopulmonary Therapies Research Unit, II Department of Neonatology, Poznan University of Medical Sciences, 61-701 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1442624","DOI":"10.3389\/fped.2024.1442624","article-title":"Case Report: New phenotype of late-onset St\u00fcve\u2013Wiedemann syndrome due to a C-terminal variant in the LIFR gene","volume":"12","author":"Melnik","year":"2024","journal-title":"Front. 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