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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.