Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window—A Tip for Prenatal Diagnostics for Rare Heart Anomalies
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-02-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/12/3/569 |
| _version_ | 1797446831513272320 |
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| author | Anna Kasielska-Trojan Barbara Święchowicz Bogusław Antoszewski |
| author_facet | Anna Kasielska-Trojan Barbara Święchowicz Bogusław Antoszewski |
| author_sort | Anna Kasielska-Trojan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T13:46:14Z |
| format | Article |
| id | doaj.art-7be2aab5e1d74930ba41252597819836 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T13:46:14Z |
| publishDate | 2022-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-7be2aab5e1d74930ba412525978198362023-11-30T20:58:43ZengMDPI AGDiagnostics2075-44182022-02-0112356910.3390/diagnostics12030569Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window—A Tip for Prenatal Diagnostics for Rare Heart AnomaliesAnna Kasielska-Trojan0Barbara Święchowicz1Bogusław Antoszewski2Plastic, Reconstructive and Aesthetic Surgery Clinic, Medical University of Lodz, Kopcinskiego 22, 90-153 Lodz, PolandPlastic, Reconstructive and Aesthetic Surgery Clinic, Medical University of Lodz, Kopcinskiego 22, 90-153 Lodz, PolandPlastic, Reconstructive and Aesthetic Surgery Clinic, Medical University of Lodz, Kopcinskiego 22, 90-153 Lodz, PolandMultiple 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.https://www.mdpi.com/2075-4418/12/3/569aortopulmonary windowcleft lipthumb aplasia |
| spellingShingle | Anna Kasielska-Trojan Barbara Święchowicz Bogusław Antoszewski Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window—A Tip for Prenatal Diagnostics for Rare Heart Anomalies Diagnostics aortopulmonary window cleft lip thumb aplasia |
| title | Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window—A Tip for Prenatal Diagnostics for Rare Heart Anomalies |
| title_full | Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window—A Tip for Prenatal Diagnostics for Rare Heart Anomalies |
| title_fullStr | Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window—A Tip for Prenatal Diagnostics for Rare Heart Anomalies |
| title_full_unstemmed | Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window—A Tip for Prenatal Diagnostics for Rare Heart Anomalies |
| title_short | Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window—A Tip for Prenatal Diagnostics for Rare Heart Anomalies |
| title_sort | coexistence of thumb aplasia and cleft lip and alveolus with aortopulmonary window a tip for prenatal diagnostics for rare heart anomalies |
| topic | aortopulmonary window cleft lip thumb aplasia |
| url | https://www.mdpi.com/2075-4418/12/3/569 |
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