Variable presentation between a mother and a fetus with Goltz syndrome. (12th September 2013)

• Record Type: Journal Article
• Authors: Sellars, Elizabeth A.; Wusik, Katie; Weaver, K. Nicole; Hopkin, Robert J.
• Is Part Of: Prenatal diagnosis. Volume 33:Number 12(2013:Dec.)
• Page Start: 1211
• Page End: 1213
• Publication Date: 2013-09-12
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4216
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="short"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> <list id="pd4216-list-0001" list-type="bullet"> <list-item id="pd4216-li-0001"> <p>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.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> <list id="pd4216-list-0002" list-type="bullet"> <list-item id="pd4216-li-0002"> <p>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.</p> </list-item> </list> </p> </abstract>