Patient 1, family 1 | Patient 2, family 2 | Patient 3, family 3 | Patient 4, family 4 | |
---|---|---|---|---|
?: unknown. | ||||
Previous report | Le Merrer et al3, case 1 | Not reported | Al-Gazali et al5 | Gillessen-Kaesbach et al2, case 3 |
Origin | French | Sri-Lanka | United Arab Emirates | Morocco |
Sex | M | M | M | M |
Parental consanguinity | + | + | + | + |
Early death | − | + | − | + |
Birth length | 43 cm | 34 cm | ? | 37 cm |
Facial dysmorphism | + | + | + | + |
Joint laxity | + | + | + | + |
Dislocated joints | + | + | + | + |
Mental retardation | − | ? | ? | + |
Visceral malformations | − | Atrial septal defect | − | − |
“Swedish key” | + | + | + | + |
Advanced carpal/tarsal bone age | + | + | + | + |
Typical hand anomalies | + | + | + | + |