Eight isolated cases of KBG syndrome: a new hypothesis of study.
We report on eight cases of patients affected by KBG syndrome (KBG stands for the initials of the affected patients in the original report), a rare genetic disease, that we find only in 40 cases mentioned in the scientific literature. In this work we present the minimum diagnostic criteria of diagnosis due to identify the syndrome and a hypothesis of study for the research of the involved factors.
Davanzo
A M G
AM
Centro di Genetica Medica e Centro Regionale Diagnosi e Terapia Bassa Statura, "San Giuseppe Moscati" Hospital - Avellino (Italy).
Rosalia
G
G
Biondi
M
M
De Brasi
D
D
Colucci
A R
AR
Panetta
A
A
Zaccagnino
P
P
Andreoli
G
G
Roggini
M
M
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D003731:Dental Caries / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000503:physiopathology; D010146:Pain / Q000503:physiopathology; D013577:Syndrome; D014076:Tooth Diseases / Q000209:etiology