The KBG syndrome: an additional sporadic case.
We report the sporadic case of a boy with clinical features of KBG syndrome, including slight mental retardation, characteristic facies, macrodontia, and skeletal anomalies.
Mathieu
M
M
Unité de Génétique Clinique, CHU Amiens, France.
Helou
M
M
Morin
G
G
Dolhem
P
P
Devauchelle
B
B
Piussan
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*