Table 1 Clinical features of our cohort of Kabuki syndrome patients
From: Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
Gender | 36/62 (58.1%) Male |
|---|---|
| Â | 26/62 (41.9) Female |
General features | Â |
Short stature | 38/62 (61.2) |
Microcephaly | 18/62 (29) |
Neonatal problems | 42/62 (67.7) |
Facial | Â |
Long palpebral fissures | 59/62 (95.2) |
Everted lower eyelids | 53/62 (85.5) |
Large dysplastic ears | 56/62 (90.3) |
Arched eyebrows, sparse lateral one third | 51/62 (82.2) |
Flat nasal tip | 43/62 (69.3) |
Abnormal dentition | 33/62 (53.2) |
High/cleft palate | 37/62 (59.7) |
Strabismus | 26/62 (41.9) |
Blue sclerae | 11/62 (17.7) |
Micrognathia | 20/62 (32.2) |
Ptosis | 32/62 (51.6) |
Broad nasal root | 39/62 (62.9) |
Oligodontie | 23/62 (37.1) |
Thin upper and full lower lip | 44/62 (71) |
Limb/skeletal | Â |
Persistent fetal pads | 47/62 (75.8) |
Brachy/clinodactyly | 39/62 (62.9) |
Lax joints | 30/62 (48.4) |
Hip dislocation | 8/62 (12.9) |
Visceral anomalies | Â |
Cardiac anomalies | 37/62 (59.7) |
Urogenital anomalies | 24/62 (38.7) |
Neurologic | Â |
MR | 52/62 (83.9) |
Hypotonia | 37/62 (59.7) |
Seizures | 13/62 (21.4) |
Other clinical features (most recurrent) | Â |
frequent infections | 26/62 (41.9) |
leftearly breast development | 10/62 (16.1) |
lefthypoacusia | 7/62 (11.3) |
skeletal anomalies | 6/62 (9.7) |
leftthyroid anomalies | 4/62 (6.9) |
leftagenesis/dysgenesis corpus callosum | 3/62 (5.2) |