From: Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
Clinical manifestation | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Percentage in this series | Cumulative percentage | |
---|---|---|---|---|---|---|---|---|---|---|---|
General Information | Gender | M | M | F | M | F | M | M | M | Â | Â |
Age of diagnosis | 7 y | 3 y | 8 y | 8 mo | 2 y | 9 y | 4 y 11 m | 4 y 1 m | Â | Â | |
Age at follow-up | 8 y | 4 y | Â | Â | 3 y | Â | Â | 5 y 6 m | Â | Â | |
Typical craniofacial abnormality | High/sparse eyebrows | + | + | + | + | + | + | + | + | 100.0% | 85% |
Long palpebral fissures | + | + | + | + | + | + | + | + | 100.0% | 99% | |
Blue sclera | - | + | + | + | + | Â | - | + | 71.4% | 31% | |
Strabismus | - | - | - | - | - | - | + | - | 12.5% | 36% | |
Ptosis | - | - | - | - | - | - | - | - | 0.0% | 50% | |
Large ears | + | + | + | + | + | + | + | + | 100.0% | 84% | |
Depressed nasal tip | + | + | + | + | + | + | + | + | 100.0% | 83% | |
Micrognathia | - | + | - | + | Â | Â | + | + | 66.7% | 40% | |
Abnormal dentition | - | - | + | Â | Â | Â | Â | + | 50.0% | 68% | |
skeletal abnormality | Clinodactyly of the 5th finger | + | + | - | + | - | - | - | + | 50.0% | 50% |
Hip dislocation | + | - | - | - | - | - | Â | - | 14.3% | 18% | |
Hyperlaxity | + | - | - | - | - | - | Â | + | 28.6% | 74% | |
Scoliosis/vertebral malformation | + | - | - | - | - | - | - | - | 12.5% | 32% | |
Dermatoglyphic abnormalities | Fingertip pads | + | + | + | + | + | + | + | + | 100.0% | 89% |
Cerebral abnormality | Mental retardation | + | + | + | + | + | + | - | + | 87.5% | 84% |
Hypotonia | - | - | - | - | - | - | - | + | 12.5% | 68% | |
Seizures | - | - | + | - | + | - | - | - | 25% | 17% | |
Head circumference at initial outpatient diagnosis (cm) | 51 | 46.7 | 50 | 42.5 | 42 | 49.8 | 49 | 46.7 | Â | Â | |
Microcephaly | - | - | - | - | + | - | - | + | 25% | 26% | |
Postnatal growth | Weight at birth (g) | 3250 | 2500 | 2650 | Â | 2950 | Â | Â | 2000 | Â | Â |
Body length at birth (cm) | 50 | Â | 48 | Â | 49 | Â | Â | Â | Â | Â | |
Weight at initial outpatient diagnosis (kg) | 26 | 13 | Â | 7 | Â | 20 | 14 | 11 | Â | Â | |
Height at initial outpatient diagnosis (cm) | 121 | 101 | Â | Â | Â | 107 | 99 | 86 | Â | Â | |
Weight at follow-up (kg) | 27 | 15 | Â | Â | 12 | Â | Â | Â | Â | Â | |
Height at follow-up (cm) | 125 | 102 | Â | Â | 96 | Â | Â | 98 | Â | Â | |
Postnatal growth retardation | - | - | Â | Â | - | + | + | - | 33.3% | 55% | |
Feeding difficulties | + | - | - | - | - | - | - | - | 12.5% | Â | |
Other common symptoms | Frequent infections | + | + | - | - | + | - | + | + | 62.5% | 60% |
Cardiac anomalies | - | - | - | - | + | - | + | + | 37.5% | 42% | |
Special features | + | + | Â | Â | Â | Â | Â | Â | Â | Â |