Table 1

Features of Ellis van Creveld syndrome, Weyer's acrofacial dysostosis and the family reported here

Feature
EvC
Weyer's
Patient 1 (IV-9)
Patient 2 (V-8)

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
+




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