Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVCgene

BMC Medical Genetics

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.

ISSN: 1471-2350