Table 1. Clinical findings in five cases with cutis tricolor syndrome.
Main features | 1 | 2 | 3 | 4 | 5 |
---|---|---|---|---|---|
Sex | Male | Female | Female | Male | Male |
Age | 2 | 4 | 12 | 13 | 14 |
Clinical manifestations | |||||
Height | 25th | 50th | 95th | 75th | 50th |
Weight | 50th | 50th | 97th | 97th | 50th |
OFC | 25th | 50th | 98th | 25th | 50th |
Cutis tricolor (pattern) | L, P | P | L, P | P | M |
Face | + | − | − | + | − |
Trunk | + | + | + | + | + |
Upper limbs | − | + | + | − | − |
Lower limbs | + | + | + | + | − |
Coarse face | + | − | + | + | − |
Facial asymmetry | + | − | + | + | − |
Dolichocephalism | + | − | − | + | |
Frontal bossing | + | − | + | + | − |
Orbital bossing | + | − | + | + | − |
Brushy eyebrows | + | + | + | + | + |
Hypertelorism | + | − | + | + | − |
Epicanthus | + | − | − | + | − |
Deep nasal bridge | + | − | + | + | − |
Large/bulbous nose | + | − | + | + | − |
Large/anteverted nostrils | + | − | − | + | − |
Low set ears | + | − | − | + | − |
Posteriorly angulated ears | + | − | − | + | − |
Wide philtrum | + | − | + | + | − |
Prominent/thick lips | + | − | − | + | − |
Prominent chin | + | + | + | + | − |
Clinodactyly | + | + | + | − | − |
Short neck | + | + | + | + | − |
Pectus excavatum | + | + | + | + | + |
Developmental milestoned | D | N | D | D | N |
Hypotonia | + | − | + | + | − |
Poor co-ordination | + | − | − | − | − |
Language | D | N | D | D | N |
Epilepsy | − | − | − | + | + |
Onset | NA | NA | NA | 6y | 2y |
Seizure type | NA | NA | NA | GTCS | GTCS |
Outcome/age ceased | NA | NA | NA | 9y | 11y |
Behavioural anomalies | + | − | − | + | + |
Mental retardation | Mo | − | Mi | Mo | Mi |
Other | − | − | Cataract | − | VSD |
OFC, occipitofrontal circumference; L, linear; P, patches; M, multiple maculae; +, present; −, absent; N, normal; D, delayed; NA, not applicable; y, years; GTCS, generalised tonic clonic seizures; Mi, mild; Mo, moderate; Se, severe; VSD, ventricular septal defect.