KBG syndrome in a cohort of Italian patients.
KBG syndrome comprises a distinct facial phenotype, macrodontia, short stature, and skeletal anomalies. So far, it has been reported in 29 individuals. Recently, diagnostic criteria were outlined. Here, we describe eight new patients whose clinical and radiological findings fit the diagnostic criteria of KBG syndrome. While most patients were sporadic in occurrence, in two families the disorder was transmitted from mildly affected mothers to their affected children. The phenotype of KBG syndrome has been reviewed based on published and present patients. EEG anomalies with or without seizures, mixed hearing loss, palatal anomalies with secondary speech disorder, distinct age-related behavior, and cryptorchidism are possible additional characteristics. Less common manisfestations were posterior fossa malformations, eye defects, and congenital heart defects.
Brancati
Francesco
F
CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.
D'Avanzo
Maria Gabriella
MG
Digilio
Maria Cristina
MC
Sarkozy
Anna
A
Biondi
Massimo
M
De Brasi
Davide
D
Mingarelli
Rita
R
Dallapiccola
Bruno
B
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D015331:Cohort Studies; D019465:Craniofacial Abnormalities; D004392:Dwarfism; D005260:Female; D034381:Hearing Loss; D006801:Humans; D008607:Intellectual Disability; D007558:Italy; D008297:Male; D010159:Palate / Q000002:abnormalities; D013577:Syndrome; D014071:Tooth Abnormalities