Conflict of interest: none.
Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly
Article first published online: 21 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 7, pages 1750–1754, July 2013
How to Cite
2013. Focal dermal hypoplasia (Goltz–Gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. Am J Med Genet Part A 161A:1750–1754., , , , , , , , , , , , , , , , .
- Issue published online: 19 JUN 2013
- Article first published online: 21 MAY 2013
- Manuscript Accepted: 4 MAR 2013
- Manuscript Received: 29 JUN 2012
- focal dermal hypoplasia;
- Goltz–Gorlin syndrome;
- PORCN gene;
- cystic malformation of the spinal cord
Focal dermal hypoplasia (FDH; Goltz–Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system, and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder. © 2013 Wiley Periodicals, Inc.