Table 1. Main signs and symptoms of the patients with a mutation in the CREBBP intron20 splice donor site.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
|---|---|---|---|---|
| Growth retardation <3rd centile | + | − | + | − |
| Intellectual disability | Severe | Mild | Severe | Mild |
| Highly arched, broad eyebrows | + | − | + | + |
| Long eyelashes | + | + | + | + |
| Hypertelorism | + | + | + | + |
| Downward slanted palpebral fissures | − | − | − | − |
| Convex nasal ridge | − | − | − | − |
| Nasal septum below alae nasi | − | + | − | + |
| Long philtrum | + | + | − | − |
| Thin upper vermillion | + | − | + | + |
| Down-turned corners of mouth | + | − | − | − |
| Highly arched palate | − | − | + | − |
| Grimacing smile | − | + | + | + |
| Broad/angulated thumbs | − | +/− | +/− | +/− |
| Broad terminal phalange fingers | − | + | − | + |
| Broad, angulated big toes | − | +/+ | +/− | −/− |
| CREBBP mutation | c.3779+1G>A | c.3779+2T>C | c.3779+3A>T | c.3779+5G>C |
| De novo (paternity and maternity tests) | y | y father deceased | y | y |
| Other | Syndactyly toes 1–3 | Pectus excavatum | Vesicoureteral reflux | − |
| Short middle phalange fingers |
Mutations submitted to www.LOVD.nl/CREBBP (patient IDs 00166, 00112, 00098, 00035).
CREBBP reference sequence NM_004380.2; exons were numbered like in NG_009873.1.