How to cite this article: Fry AE, Klingenberg C, Matthes J, Heimdal K, Hennekam RCM, Pilz DT. 2009. Connective tissue involvement in two patients with features of cranioectodermal dysplasia. Am J Med Genet Part A 149A:2212–2215.
Connective tissue involvement in two patients with features of cranioectodermal dysplasia†
Article first published online: 16 SEP 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 10, pages 2212–2215, October 2009
How to Cite
Fry, A. E., Klingenberg, C., Matthes, J., Heimdal, K., Hennekam, R. C.M. and Pilz, D. T. (2009), Connective tissue involvement in two patients with features of cranioectodermal dysplasia. Am. J. Med. Genet., 149A: 2212–2215. doi: 10.1002/ajmg.a.33027
- Issue published online: 24 SEP 2009
- Article first published online: 16 SEP 2009
- Manuscript Accepted: 1 JUL 2009
- Manuscript Received: 4 MAR 2009
- cranioectodermal dysplasia;
- Sensenbrenner syndrome;
- cutis laxa;
- joint laxity;
- connective tissue;
Cranioectodermal dysplasia (CED) is an infrequently described autosomal recessive disorder characterized by craniofacial, ectodermal and skeletal abnormalities, and associated with increased risk of chronic renal failure. A degree of joint laxity has been noted in some CED patients, but significant skin and soft-tissue laxity has not previously been highlighted as part of the syndrome. We report on two unrelated patients with CED and significant connective tissue involvement, including cutis laxa, hernias, and joint laxity. We conclude with a brief discussion of the differential diagnosis. © 2009 Wiley-Liss, Inc.