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

Autor:	Bogusław Antoszewski, Barbara Święchowicz, Anna Kasielska-Trojan
Rok vydání:	2022
Předmět:	Clinical Biochemistry
Zdroj:	Diagnostics. 12:569
ISSN:	2075-4418
DOI:	10.3390/diagnostics12030569
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::7233ac3717a00443c686e61bf5f3b722 https://doi.org/10.3390/diagnostics12030569 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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