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  • Title: Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.
    Author: Zollino M, Battaglia A, D'Avanzo MG, Della Bruna MM, Marini R, Scarano G, Cappa M, Neri G.
    Journal: Am J Med Genet; 1994 Sep 01; 52(3):302-7. PubMed ID: 7810561.
    Abstract:
    A diagnosis of KBG syndrome was made in six unrelated patients. They presented with slight mental retardation, macrodontia, and skeletal abnormalities. Microcephaly, short stature, facial anomalies, and syndactylies were also noted. The diagnostic criteria of the KBG syndrome are discussed.
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