Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.
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.
Zollino
M
M
Istituto di Genetica Medica, Facolta' di Medicina A. Gemelli, U.C.S.C., Rome, Italy.
Battaglia
A
A
D'Avanzo
M G
MG
Della Bruna
M M
MM
Marini
R
R
Scarano
G
G
Cappa
M
M
Neri
G
G
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*