Table 2 The clinical features of our patient compared to 5 previously reported patients
This patient | Wuyts et al. [14] | McBrien et al. [15] | Pereza et al.[16] | Deardorff et al. [11] | Deardorff et al. [11] | |
|---|---|---|---|---|---|---|
Deletion size | 0.5MB 3.5 Mb | 5.4 Mb | 1.69 Mb | 7.5 Mb | 3.3 MB | 2.0 MB |
TRPS1 | Not deleted | Not deleted | Not deleted | Not deleted | Not deleted | Not deleted |
RAD | Deleted | Deleted | Deleted | Deleted | Deleted | Deleted |
EXT1 | Deleted | Deleted | Deleted | Deleted | Deleted | Deleted |
Facial dysmorphism | ||||||
Sparse and thin scalp hair | − | + | + | + | + | NA |
Arched, thick eyebrows | + | + | + | + | + | + |
Long eyelashes | + | − | + | + | + | + |
Downslanted palpebral fissures | + | + | NA | + | NA | NA |
Bulbous tip of the nose | − | − | − | + | − | − |
Depressed/broad nasal bridge | + | + | − | + | + | + |
Large prominent ears | + | NA | − | + | NA | NA |
Long and flat philtrum | − | + | − | + | − | + |
Thin upper lip vermilion | − | + | + | + | − | + |
Cleft palate/high palate | + | − | − | − | + | − |
Micrognathia/mandibular hypoplasia | + | + | − | − | + | − |
Microcephaly | − | + | + | − | + | + |
Skeletal | ||||||
Short stature | + | − | − | − | + | + |
Multiple exostoses | + | + | + | + | + | + |
Scoliosis | + | − | − | − | − | − |
Cone-shaped epiphyses | − | − | − | + | − | − |
Clinodactyly of the fifth fingers/toes | + | − | − | − | + | − |
Fat pads in fingers/toes | + | − | + | − | − | − |
Others | ||||||
Recurrent respiratory infections | + | NA | + | NA | NA | NA |
Congenital heart defect | + | − | − | − | − | − |
Intellectual disability | + | + | + | + | − | − |
