Gender | M | M | M | F | M | | M | M | F | M |
Parental height (centile) |
(mother/father) | 25th / 25th–50th | 90th/ >97th | 50th/25th | 10th/50th | 50th/50th | | ? | ? | ? | ? |
Birth parameters |
Weight | 25th | 75th | 50th | 50th | 50th | | 3rd | 90th | >97th | 50th |
Height | 50th | 90th | 50th | ? | ? | | 50th | 90th | >97th | 50th |
OFC | 50th | 75th | 50th | 90th | ? | | 50th | >97th | >97th | ? |
Growth parameters |
Weight | 75th | 90th | 97th | >97th | 75th | | 50th | 75th | ? | ? |
Height | 75th | 97th | 97th | 90th | 75th | | >97th | 75th | >97th | 75th |
OFC | 75th | >97th | >97th | >97th | 97th | | 50th | >97th | ? | >97th |
Sotos gestalt | + | + | + | + | + | 5/5 | + | + | + | + |
Delayed psychomotor development | + | + | + | + | + | 5/5 | + | + | + | + |
Epilepsy | + | − | − | + | − | 2/5 | + | − | − | − |
Large hands and feet | + | + | + | + | + | 5/5 | + | + | + | + |
Skin | Loose | Velvety | Normal | Normal | Lax Café au lait patches | | Normal | Lax | Loose | Loose |
Flat, brittle, deep set nails | + | + | + | ? | ? | 3/3 | ? | ? | ? | + |
Other | Strabismus | UCLP | | PDA | | | Optic nerve atrophy | Talipes equinovarus | Vesicoureteric reflux/joint | Vesicoureteric reflux/ |
| 2–3 syndactyly | | | Pulmonary stenosis | Joint laxity | laxity | inguinal herniae |
Brain MRI/CT scan | ? | ? | |
Ventriculomegaly | + | + | + | + | − | 4/5 | + | | | + |
Other | Parietofrontal cavity | | | | Partial agenesis of CC | |
Bone age* | Normal | 6 months advanced | 6 months advanced | Normal | 10 months advanced | | 18–24/14 months | Normal | Normal | Normal |
Karyotype | 46,XY | 46,XY | 46,XY | 46,XX | 46,XY | | 46,XY | 46,XY | 46,XX | 46,XY |