Table 1 Clinical features of described patients with SAS
Patient | Case 1 | Case 2 | Case 3 |
|---|---|---|---|
Gender | F | F | M |
Age at diagnosis, years | 2.5 | 2 | 1 |
Current age, years | 4 | 6 | 7 |
Nucleotide | c1985delT | c1196G > A | c1286G > A |
Protein | F662Sfs*9 | Arg399His | Arg429Gln |
Inheritance | De novo | De novo | De novo |
Variant reference | This report | Zarate et al | Zarate et al |
DD/ID | + | + | + |
Speech development disorder | + | + | + |
Behavior anomalies | + | − | − |
Sleep difficulties | − | − | − |
Abnormalities on Brain imaging | Cyst of pellucid septal cave | Cyst of pellucid septal cave | − |
Abnormal EEG | − | − | − |
Growth retardation | + | + | − |
Seizures | − | − | − |
Micrognathia | − | − | − |
Cleft palate | − | + | + |
High-arched palate | + | − | − |
Macrodontia | + | + | + |
Crowding teeth | + | + | + |
Missing teeth | + | + | − |
Skeletal abnormalities | − | − | − |