Short stature (or IUGR) | ++ | ++ | − |
Mental retardation | ++ | ++ | + |
Microcephaly | ++ | NS | − 3 SD |
Malformed ears | + | + (pointed helices) | + (low set ears) |
Sparse hair | Not mentioned | + | + |
Eye abnormalities | Upward slanting palpebral fissures | Short palpebral fissures | |
Nose abnormalities | Anteverted nostrils | Prominent, broad nasal tip | Short nose |
Limb abnormalities | 4th-5th toe syndactyly | Proximally set thumbs, club feet | − |
Cytogenetic abnormalities | dup 19p13.3-pter | dup 19p13.2-pter | dup 19 p13.3-pter |
| del 13q32-qter | del 3q29-qter | |
Additional findings | Heart defect, seizures, ambiguous genitalia | Hypotonia, short neck, telecanthus | |