The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype
Version of Record online: 7 SEP 2004
Copyright © 2004 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 130A, Issue 3, pages 284–287, 15 October 2004
How to Cite
Tekin, M., Kavaz, A., Berberoğlu, M., Fitoz, S., Ekim, M., Öcal, G. and Akar, N. (2004), The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype. Am. J. Med. Genet., 130A: 284–287. doi: 10.1002/ajmg.a.30291
- Issue online: 17 SEP 2004
- Version of Record online: 7 SEP 2004
- Manuscript Accepted: 12 MAY 2004
- Manuscript Received: 22 FEB 2004
- autosomal dominant inheritance;
- KBG syndrome;
- short stature
We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases. © 2004 Wiley-Liss, Inc.