Dysmorphic features | N | Total | % | Literature frequencya (%) |
---|---|---|---|---|
Microcephalyc | 2 | 20 | 10 | 13 |
Macrocephalyd | 1 | 20 | 5 | 7 |
Sparse eyebrows | 3 | 21 | 14 | 18b |
Long eyelashes | 1 | 21 | 5 | 45 |
Periorbital fullness | 5 | 21 | 24 | 45 |
Descending palpebral fissure | 7 | 21 | 33 | |
Hypertelorism | 3 | 21 | 14 | 36 |
Strabismus | 6 | 21 | 29 | 26 |
Epicanthal folds | 1 | 21 | 5 | 57 |
Wide nasal bridge | 3 | 21 | 14 | 16 |
Large/wide nose | 2 | 21 | 10 | |
Bulbous nose | 3 | 21 | 14 | 80 |
Anteverted nares | 1 | 21 | 5 | 9b |
Full cheeks | 1 | 21 | 5 | 25 |
High forehead | 4 | 21 | 19 | |
Short philtrum | 1 | 21 | 5 | 0b |
Ear anomalies | 5 | 21 | 24 | 54 |
Thick lower vermillion | 3 | 21 | 14 | 27b |
Down-turned mouth | 3 | 21 | 14 | |
Short stature/delayed growthe | 1 | 29 | 3 | 11 |
Tall stature/accelerated growthf | 5 | 29 | 17 | 9 |