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Perinatal/Neonatal Case Presentation

Prenatal diagnosis of Potocki–Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery

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Abstract

Potocki–Lupski syndrome (PTLS) is a rare genetic disorder associated with neurodevelopmental delay and heart defects. We report the first case of prenatal diagnosis of PTLS in a fetus with hypoplastic left heart and aberrant right subclavian artery. Detection of a fetal heart defect should be followed by chromosomal and genetic studies in order to rule out fetal aneuploidy and/or associated genetic syndromes with significant implications for the treatment of children with PTLS.

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Acknowledgements

This work was supported by Fondo de Investigaciones Sanitarias (FIS#PI081712 and [BA#09/90011]). We are grateful to Thomas O’Boyle for his editorial assistance.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Fetal Medicine Unit, Hospital General Gregorio Marañón, Universidad Complutense de Madrid, Madrid, Spain

    C Bravo, F Gámez, R Pérez, Á Aguarón & J De León-Luis

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  1. C Bravo
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  2. F Gámez
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  3. R Pérez
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  4. Á Aguarón
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  5. J De León-Luis
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Correspondence to J De León-Luis.

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Bravo, C., Gámez, F., Pérez, R. et al. Prenatal diagnosis of Potocki–Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery. J Perinatol 33, 394–396 (2013). https://doi.org/10.1038/jp.2012.77

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  • DOI: https://doi.org/10.1038/jp.2012.77

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