Table 1 Kabuki syndrome clinical features. The clinical features of the eight Kabuki patients included in this study.
Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 |
Age | 8 y | 10.7 y | 9 y | 26 y | 11.5 y | 9 y | 11.5 y | 13 mo |
Sex | M | M | M | F | F | F | F | F |
Age of Dx | 6 y | 1 mo | 9 mo | 8 mo | 11.5 y | 9 y | 5 y | 7 mo |
Development | ||||||||
Single Words | 24 mo | 5 y | 24 mo | 19 mo | 30 mo | 12 mo | 36 mo | No |
Walking | 16 mo | 18 mo | 22 mo | 16 mo | 3.5 y | 12 mo | 30 mo | No |
Hearing Loss | No | No | No | No | Yes | No | No | No |
Growth% | ||||||||
L | 40% | 30% | <3% | 50% | <3% | 25% | <5% | 75% |
W | 60% | 80% | <3% | 80% | <3% | 98% | 70% | 25% |
OFC | 30% | 98% | <3% | 5% | 2% | 50% | 20% | <2% |
Anomalies | ||||||||
Palate | Cleft palate | Lip pit | ||||||
Cardiac * | BAV | DAR | ASD | AS | BAV | Mitral insufficiency | ||
Renal | Pelvic kidney | |||||||
Premature thelarche | + | + | ||||||
Scoliosis | + | |||||||
Other * | Crypt. | GER, Ant. anus | GER, Strabismus, CDH, Nystagmus | Strabismus | Seizure disorder, Hemivertebra | GER, IgA and IgG deficiency | ||