Table 2.
Clinical feature |
Case 1 (Toronto; 23 months) |
Case 2 (Edinburgh; 8 years) |
Case 3 (Leiden; 16 years) |
Case 4 (Toronto; 30 years) |
---|---|---|---|---|
Birth weight | 2,850g (50–75th centile) | 3,080g (12th centile) | 3,200g (25th centile) | 2,150g (<3rd centile) |
Microcephaly | – | + | not reported | – |
Generalized obesity | – | – | + | + |
Ocular anomalies | + | + | not reported | – |
Palpebral fissure anomalies | + | + | + | – |
Cleft palate | + | – | – | + |
Dental anomalies | + | – | + | + |
Conductive hearing loss | + | – | not reported | + |
Structural brain anomaly | + | + | – | – |
Developmental delay | + | + | + | + |
Hypotonia | + | + | – | – |
Congenital heart disease | + | + | – | – |
Musculoskeletal anomalies | + | + | not reported | + |