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Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window—A Tip for Prenatal Diagnostics for Rare Heart Anomalies

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  • معلومة اضافية
    • بيانات النشر:
      MDPI AG
    • الموضوع:
      2022
    • Collection:
      Directory of Open Access Journals: DOAJ Articles
    • نبذة مختصرة :
      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.
    • ISSN:
      2075-4418
    • Relation:
      https://www.mdpi.com/2075-4418/12/3/569; https://doaj.org/toc/2075-4418; https://doaj.org/article/7be2aab5e1d74930ba41252597819836
    • الرقم المعرف:
      10.3390/diagnostics12030569
    • الدخول الالكتروني :
      https://doi.org/10.3390/diagnostics12030569
      https://doaj.org/article/7be2aab5e1d74930ba41252597819836
    • الرقم المعرف:
      edsbas.12E708B1