rss
BMJ Case Reports 2009; doi:10.1136/bcr.09.2008.0909
  • Other full case

Goltz syndrome: report of two severe cases

  1. Riddell W Scott1,
  2. Eniko K Pivnick2,
  3. Stacy H Dowell3,
  4. James W Eubanks4,
  5. Eunice Y Huang4,
  6. Ignatia B Van den Veyver5,
  7. Xiaoling Wang5
  1. 1
    The Dermatology Group, 5210 Poplar Avenue, Memphis, Tennessee, 38119, USA
  2. 2
    University of Tennessee Health Science Center, Pediatrics, Division of Genetics, 711 Jefferson Avenue, Memphis, Tennessee, 38063, USA
  3. 3
    Le Bonheur Children’s Medical Center, 50 N. Dunlap, Memphis, 38103, USA
  4. 4
    University of Tennessee Health Science Center, Surgery, 777 Washington Avenue, Memphis, Tennessee, 38163, USA
  5. 5
    Baylor College of Medicine, Obstetrics and Gynecology and Molecular and Human Genetics, 6621 Fannin St, Houston, Texas, 77030, USA
  1. Eniko K Pivnick, ekarman54{at}gmail.com
  • Published 17 March 2009

Summary

Goltz syndrome is a rare, X-linked dominant congenital disorder with abnormalities in derivatives of each of the three embryonic germ layers. Its clinical phenotype varies widely, ranging from isolated skin defects to absence of limbs and/or organs. The rarity and wide range of presentation contribute to delayed or missed diagnosis.

Footnotes

  • Competing interests: none.

  • Patient consent: Patient/guardian consent was obtained for publication.

This Article

  1. Summary
  2. Full text

Responses

  1. Submit a response
  2. No responses published

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog