title: Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.
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.
authors: Istituto di Genetica Medica, Facolta' di Medicina A. Gemelli, U.C.S.C., Rome, Italy.
authors: M
authors: M
authors: Zollino
authors: A
authors: A
authors: Battaglia
authors: M G
authors: MG
authors: D'Avanzo
authors: M M
authors: MM
authors: Della Bruna
authors: R
authors: R
authors: Marini
authors: G
authors: G
authors: Scarano
authors: M
authors: M
authors: Cappa
authors: G
authors: G
authors: Neri
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012886:Skull / Q000002:abnormalities; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*