Finding | This report (n=5) | Sandhaus et al3 (n=1) | Koslowski and Nelson4 (n=1)* | Habboub and Thneibet5 (n=1) | Azouz and Koslowski6 (n=1) |
---|---|---|---|---|---|
+ present; − absent; ? not mentioned in report. | |||||
*Two patients were reported in this paper, But detailed clinical and radiological findings were only available in one (patient 1), and it is the findings in this patient that are summarised here. | |||||
†TEV = talipes equinovarus. | |||||
‡Mansour et al.7 | |||||
§A third patient had bilateral clavicular hooks suggestive of radial ray abnormalities such as dislocated radial heads, but unfortunately elbow and forearm views were not available to confirm this. | |||||
Scapula | |||||
Winged | 2/4 | + | − | + | − |
Hypoplastic or dysplastic | 4/4 | − | + | − | − |
Low lying | –/4 | − | − | + | − |
Spine | |||||
Mild/moderate scoliosis | 2/5 | + | − | ? | − |
Severe scoliosis | 3/5 | − | − | ? | − |
Kyphosis | 2/5 | − | − | ? | + |
Lumbar lordosis | 3/5 | + | + | ? | − |
Dysraphism | |||||
Cervical | 4/4 | − | + | ? | − |
Thoracic | 1/4 | − | − | ? | − |
Lumbar | 3/5 | − | − | ? | + |
Sacral | –/5 | − | + | ? | − |
Feet | |||||
Broad | –/2 | − | + | ? | − |
Brachydactyly | 2/2 | + | − | ? | − |
Sandal gap | –/2 | − | + | ? | − |
Pes planus | –/2 | + | − | ? | − |
TEV† | –/2 | − | + | ? | − |
Mild bowing of tibia and fibula | 2/2 | − | − | ? | − |
Relatively short fibula | 2/2 | − | − | ? | − |
Antegonial mandibular notch‡ | 1/1 | ? | ? | ? | − |
Dysmorphic face | 5/5 | − | + | − | + |
Hypoplastic phalanges of hands | 2/2 | − | + | ? | + |
Flattened/absent epiphyses | 4/5 | − | + | ? | − |
Dislocated/subluxed radial heads | 2/2§ | − | + | ? | − |
Cleft/high palate | 2/5 | + | + | + | + |
Hyperlaxity of joints | –/5 | − | − | + | − |
Motor delay | 2/5 | − | − | + | + |
Speech delay | 3/5 | − | − | − | + |
Recurrent childhood respiratory infections | 4/5 | − | + | − | + |