|
Major and minor clinical features of KBG syndrome. |
|
| CLINICAL CHARACTERISTICS |
% of KBG patients (counted individuals) |
|
|
|
| Major Features |
|
| Facial dysmorphisms |
100 (45) |
| Prominent/high nasal bridge |
78 |
| Thin upper lip |
71 |
| Anteverted nostrils |
62 |
| Brachycephaly/turricephaly |
60 |
| Telecanthus/hypertelorism |
58 |
| Long philtrum |
51 |
| Wide eyebrows |
49 |
| Prominent/anteverted ears |
42 |
| Mild synophrys |
35 |
| Epicanthal folds |
26 |
| Ptosis |
24 |
| Facial asymmetry |
24 |
| Macrodontia |
100* (42) |
| with oligodontia |
38 (45) |
| Skeletal abnormalities |
100 |
| Abnormal ribs/vertebrae |
83 (35) |
| Delayed bone age |
79 (28) |
| Short hand tubular bones |
78 (40) |
| Brachy-clinodactylous 5th finger |
62 (45) |
| Abnormal spine curvature |
58 (31) |
| Short femoral necks/hip dysplasia |
50 (26) |
| Sternum abnormalities |
29 (44) |
| Wormian bones in skull |
19 (21) |
| Cognitive deficits/psychomotor delay |
91 (45) |
| Short stature (<10°c) |
77 (45) |
| Abnormal EEG |
72 (25) |
| with seizures |
24 (45) |
| Abnormal hair implantation |
58 (45) |
| Minor Features |
|
| Cutaneous syndactyly, toes II/III |
46 (45) |
| Webbed/short neck |
42 (38) |
| Cryptorchidism |
28 (29) |
| Hearing loss |
23 (43) |
| Palatal defects (including uvula) |
18 (38) |
| Strabismus |
18 (45) |
| Congenital heart defects |
9 (45) |
|
*in three patients macrodontia was only reported on interview as premature loss of teeth occurred | |
Brancati et al. Orphanet Journal of Rare Diseases 2006 1:50 doi:10.1186/1750-1172-1-50 |
|