Table 1 Clinical representation of affected individuals in family
Clinical features | Patient 1 (VI:1) | Patient 2 (VI:2) | Patient 3 (VI:3) |
|---|---|---|---|
Age | 18 | 10 | 8 |
Intellectual disability | + (mild) | + (mild) | + (mild) |
Bone abnormality | + | + | + |
Prominent lower lip | – | + | + |
Speech abnormalities | Echolalia | Slow | Slow |
marfanoid habitus | – | – | – |
Ambulatory difficulties | limited | limited | limited |
Low muscle mass | + | – | – |
Kyphscoliosis | + | – | – |
High narrow or cleft palate | + | + | + |
Facial asymmetry | – | – | – |
Unsteady gait | – | – | – |
Long toes | + | – | – |
hypotonia | – | – | – |
Nonspecific movement disorder | – | – | – |
Seizures | + | + | + |
Long hands with large fingers | + | – | – |