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Features of Ellis van Creveld syndrome, Weyer's acrofacial dysostosis and the family reported here |
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| Feature |
EvC |
Weyer's |
Patient 1 (IV-9) |
Patient 2 (V-8) |
|
|
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| Postaxial polydactyly |
+++ |
++ |
+ |
+ |
| Cardiac anomalies |
++ |
+ |
+ |
+ |
| Narrow chest |
++ |
- |
- |
- |
| Short stature |
+++ |
+ |
+ |
+ |
| Distal limb shortening |
++ |
- |
- |
- |
| Buccolabial fold, lip notch |
+++ |
- |
- |
- |
| Short nails |
++ |
++ |
+ |
+ |
| Dysplastic nails |
+++ |
+ |
- |
- |
| Excess frenula |
++ |
+ |
- |
+ |
| Hypodontia |
++ |
+ |
+ |
+ |
| Neonatal teeth |
++ |
- |
- |
- |
| Small or bicuspid teeth |
++ |
++ |
- |
- |
| Genital anomalies |
+ |
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In the "EvC" and "Weyers" columns, the symbol +++ indicates a nearly invariant finding, ++ indicates a frequent finding, + indicates an occasional finding, and – indicates a finding that is not considered part of that syndrome. In the columns describing the present patients + indicates a feature is present and – indicates a feature is absent. | ||||
Ulucan et al. BMC Medical Genetics 2008 9:92 doi:10.1186/1471-2350-9-92 |
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