Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | % | Sebold et al., 2010 |
---|---|---|---|---|---|---|---|---|---|---|---|
Clinical findings | |||||||||||
Sex | M | F | F | M | F | M | M | F | F | ||
FD | |||||||||||
triangular face | + | + | + | + | + | + | + | + | + | 100% | * |
horizontal palpebral fissure | + | + | + | + | + | + | + | + | – | 89% | * |
Synophris | + | – | – | – | – | – | – | – | + | 22% | * |
Strabismus | – | + | – | – | + | – | – | + | – | 33% | 45% |
epicanthus | + | + | – | – | – | – | – | – | – | 22% | * |
low-set ears | + | + | + | + | + | + | + | + | + | 100% | 32% |
anteverted nares | – | – | + | – | + | + | – | + | + | 55% | * |
Depressed nasal Bridge | + | + | + | + | + | + | + | + | + | 100% | * |
Smooth philtrum | + | + | + | + | + | + | + | + | + | 100% | 87% |
small mouth | – | + | + | + | + | + | + | + | + | 89% | 17/31 |
thin upper lip | + | + | + | + | + | + | + | + | + | 100% | 35% |
Developmental delay/ID | + | + | + | + | + | + | + | + | + | 100% | 100% |
Growth retardation | – | + | + | + | + | + | + | – | – | 78% | 30% |
Microcephaly | + | + | + | + | + | + | + | + | – | 89% | 53% |
Cardiac defect | + | – | – | – | + | + | – | – | NP | 37% | 24% |
Abnormal muscle tone | + | – | – | – | – | + | – | – | – | 22% | 73% |
Seizures | – | – | – | – | + | – | – | – | – | 11% | 21% |
Stereotyping | + | + | – | – | – | – | – | – | – | 22% | 25% |
Kidney defect | – | – | – | – | – | – | + | – | – | 11% | 6,45% |
Single palmar crease | – | + | – | – | – | + | – | – | – | 22% | * |
Hypospadias | – | – | – | – | – | + | – | – | – | 11% | 4% |
Ectopic testis | + | – | – | – | – | – | + | – | – | 22% | * |
Hearing loss | – | – | – | – | – | – | – | – | – | 0% | 12% |
Feet anomalies | – | – | – | – | + | – | + | – | – | 22% | 23% |
Corpus callosum hypoplasia | * | – | – | – | – | – | – | + | * | 11% | 25% |