Variable presentation between a mother and a fetus with Goltz syndrome

Authors

  • Elizabeth A. Sellars,

    1. Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR, USA
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  • Katie Wusik,

    1. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
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  • K. Nicole Weaver,

    1. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
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  • Robert J. Hopkin

    Corresponding author
    1. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
    2. The Fetal Care Center of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
    3. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA
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  • Funding sources: None

  • Conflicts of interest: None declared

Abstract

What's already known about this topic?

  • Goltz syndrome is a rare and variable X-linked dominant condition that can affect a number of organ systems. Most patients have no family history of Goltz syndrome indicating that new mutations are relatively common.

What does this study add?

  • This case demonstrates the importance of considering Goltz syndrome in family members even when the symptoms are mild. This degree of variation between mother and child with a prenatal diagnosis has rarely been described. This is also the first report focused on prenatal diagnosis, which allowed a thoughtful, patient-centered approach to prenatal and postnatal management.

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