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Am J Med Genet A. 2004 Oct 15;130A(3):284-7.

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

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  • 1Division of Pediatric Genetics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey. mtekin@medicine.ankara.edu.tr


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.

[PubMed - indexed for MEDLINE]
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