Table 2. Laboratory and imaging findings in five cases with cutis tricolor syndrome.
Main features | 1 | 2 | 3 | 4 | 5 |
---|---|---|---|---|---|
Sex | M | F | F | M | M |
Age | 2 | 4 | 12 | 13 | 14 |
Radiographic feature | |||||
Small skull | + | − | − | + | − |
Prognathism | + | − | + | − | − |
Obtuse angle of mandible | + | − | + | + | − |
Absent posterior arch atlas | + | − | − | − | − |
Scoliosis | + | − | + | + | − |
Cervical | + | − | − | − | − |
Thoracic | + | − | + | + | − |
Lumbar | − | − | + | + | − |
Kyphosis | + | − | + | + | − |
Lordosis | + | − | + | + | − |
Vertebral scalloping | + | − | + | + | − |
Increased distance pedicles | + | − | + | + | − |
Altered pedicles | + | − | + | + | − |
Metaphyseal osteosclerosis | − | − | − | + | − |
Rib abnormalities | + | − | + | + | − |
Bowing of long bones | + | − | + | + | − |
Upper limbs | − | − | − | − | − |
Lower limbs | + | − | + | + | − |
Leg length discrepancy | + | − | + | + | − |
Neuroimaging features | |||||
Asymmetric ventricles | + | − | + | − | − |
White matter anomalies | + | − | − | + | − |
Corpus callosum anomalies | + | − | + | + | − |
Laboratory findings | |||||
EEG abnormalities | + | − | + | − | − |
Cytogenetic analysis | |||||
Array-CGH (anomalies) | − | − | − | − | − |
M, male; F, female; +, present; −, absent; NP, not performed; EEG, electroencephalography; CGH, comparative genomic hybridization.