Funding sources: None
Variable presentation between a mother and a fetus with Goltz syndrome
Article first published online: 12 SEP 2013
© 2013 John Wiley & Sons, Ltd.
Volume 33, Issue 12, pages 1211–1213, December 2013
How to Cite
Sellars, E. A., Wusik, K., Weaver, K. N. and Hopkin, R. J. (2013), Variable presentation between a mother and a fetus with Goltz syndrome. Prenat. Diagn., 33: 1211–1213. doi: 10.1002/pd.4216
Conflicts of interest: None declared
- Issue published online: 5 DEC 2013
- Article first published online: 12 SEP 2013
- Accepted manuscript online: 13 AUG 2013 11:36AM EST
- Manuscript Accepted: 9 AUG 2013
- Manuscript Revised: 6 AUG 2013
- Manuscript Received: 29 JAN 2013
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.