The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.

Abstract

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.

Cite this paper

@article{Tekin2004TheKS, title={The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.}, author={Mustafa Said Tekin and Asli Kavaz and Merih Berberoglu and Suat Fitoz and Mes{\'i}ha Ek{\'i}m and G{\"{o}n{\"{u}l Oçal and Nejat Akar}, journal={American journal of medical genetics. Part A}, year={2004}, volume={130A 3}, pages={284-7} }