Clinical findings | Previously reported cases (n=13)2 | Present case |
Low birth weight | 9/11 | + |
Hypotonia | 10/13 | + |
Hydrocephalus | 4/13 | (Relative macrocephaly) |
Short stature | 11/12 | Failure to thrive |
Mild developmental delay | 9/13 | + |
Normal intelligence | 8/10 | Too young |
Small hands | 10/11 | − |
Hyperextensible joints | 5/9 | − |
Scoliosis | 4/10 | Too young |
Early onset of puberty | 8/8 | Too young |
Recurrent otitis media | 5/9 | Too young |