Facial characteristics
|
Sparse/fine hair | + | + | 9/13(N) | 69.2 |
High, broad forehead/frontal bossing | + | + | 9/11 | 81.8 |
Medially flaring thick eyebrows | + | + | 36/36 | 100.0 |
Hypertelorism | + | + | 38/38 | 100.0 |
Strabismus | − | + | 18/23 | 78.3 |
Deepset eyes | + | + | 36/36 | 100.0 |
Epicanthus | + | − | 8/13 | 61.5 |
Downward slanting palpebral fissures | + | + | 11/15 | 73.3 |
Broad nasal bridge/saddle nose | + | + | 42/43 | 97.7 |
Small nose, round tip/prominent columella | + | + | 28/29 | 96.5 |
Open mouth | + | + | 24/28 | 85.7 |
Prominent pointed chin/triangular jaw | + | + | 40/40 | 100.0 |
Posterior lowset ears with uplifted lobes | + | + | 36/36 | 100.0 |
Other malformations and problems
|
HSCR | + | + | 30/47 | 63.8 |
Seizures | + | + | 35/46 | 76.1 |
Congenital heart disease | − | + | 22/47 | 46.8 |
Agenesis/hypoplasia of corpus callosum | + | + | 15/33 | 45.4 |
Renal anomalies | + | − | 10/27 | 37.0 |
Hypospadias | + | 15 NR | 12/25 | 48.0 |
Cryptorchidism | + | 15 NR | 11/25 | 44.0 |
Cleft submucous palate / high arched palate | + | + | 10/27 | 37.0 |
Dermatoglyphic anomalies | + | + | 8/9 | 88.8 |
Tapered fingers | + | + | 16/19 | 84.2 |
Pes planus with calcaneovalgus | + | + | 10/11 | 90.9 |
Mental retardation | + | + | 47/47 | 100.0 |
Microcephaly (⩽3rd centile at last follow up) | + | + | 40/46 | 86.9 |
Hypotonia | + | + | 25/26 | 96.2 |
Short stature (<3rd centile at last follow up) | + | − | 12/29 | 41.4 |
Happy, affectionate personality | + | + | 24/25 | 96.0 |