ArticleDiagnostics (Basel, Switzerland)2022
Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window-A Tip for Prenatal Diagnostics for Rare Heart Anomalies.
Article in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Novel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.Cureus · 2024Article
- Discovery ofAmerican journal of translational research · 2024Article
- Discovery and functional investigation ofAmerican journal of translational research · 2024Article
- Identification ofDiagnostics (Basel, Switzerland) · 2022Article
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3 authors at 1 institution in 1 country.
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Abstract
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.
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