{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:53:25Z","timestamp":1760151205290,"version":"build-2065373602"},"reference-count":25,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,2,23]],"date-time":"2022-02-23T00:00:00Z","timestamp":1645574400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Multiple congenital anomaly syndromes pose a challenge to neonatologists, as many anomalies may indicate cryptogenic malformations or disorders. Aortopulmonary window (APW) is a very rare congenital heart disease (CHD) and causes many difficulties in prenatal diagnostics. In this report, we describe a case of a female patient with multiple rare congenital malformations: aortopulmonary window, right thumb aplasia, facial nerve palsy and cleft lip and alveolus. None of the malformations were diagnosed prenatally. A long-term follow-up (40 years) is presented. The presence of certain defects (thumb aplasia) may indicate the need for a careful fetal examination extended by a fetal ECHO performed in a reference center of prenatal cardiology. The coexistence or syndromic character of the presented malformations should be verified in future if more such cases are described.<\/jats:p>","DOI":"10.3390\/diagnostics12030569","type":"journal-article","created":{"date-parts":[[2022,2,23]],"date-time":"2022-02-23T09:34:38Z","timestamp":1645608878000},"page":"569","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window\u2014A Tip for Prenatal Diagnostics for Rare Heart Anomalies"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2542-8623","authenticated-orcid":false,"given":"Anna","family":"Kasielska-Trojan","sequence":"first","affiliation":[{"name":"Plastic, Reconstructive and Aesthetic Surgery Clinic, Medical University of Lodz, Kopcinskiego 22, 90-153 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2314-8780","authenticated-orcid":false,"given":"Barbara","family":"\u015awi\u0119chowicz","sequence":"additional","affiliation":[{"name":"Plastic, Reconstructive and Aesthetic Surgery Clinic, Medical University of Lodz, Kopcinskiego 22, 90-153 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bogus\u0142aw","family":"Antoszewski","sequence":"additional","affiliation":[{"name":"Plastic, Reconstructive and Aesthetic Surgery Clinic, Medical University of Lodz, Kopcinskiego 22, 90-153 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,23]]},"reference":[{"key":"ref_1","first-page":"34","article-title":"Comments on a report of the aorto-pulmonary window (APW) type I coexisting with pulmonary valve stenosis and occluded arterial duct, detected prenatally at 26 weeks of gestation","volume":"5","year":"2015","journal-title":"Prenat. 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