Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

BMC Medical Genetics

Table 1 Clinical features of cases from 4 families with EvC syndrome.

Features	Case 1	Case 2	Case 3	Case 4
Ethnic origin	UAE/Yemini	Sudan	Egypt	UAE/Afghani
CHD	Common atrium with dilated coronary sinus	?	AV canal defect	ASD
Facial Features
Short/thin upper lip	+	+	+	+
Short/multiple frenula	+	+	+	+
Irregular alveolar ridge	+	+	+	+
Natal teeth	-	+	+	+
Short broad nose	+	+	+	+
Long philtrum	+	+	+	+
Skeletal features
Postaxial polydactyly	Hands, right	Hands, bilateral	Hands, bilateral	Hands and feet, bilateral
Limb shortening	Mesomelic	Mesomelic	Mesomelic	Mesomelic
Narrow chest	+	+	+	+
Nail hypoplasia	+	+	+	+/-
Radiological Features
Short long bones	+	+	+	+
Short ribs with narrow chest	+	+	+	+
Small iliac bones with downward spike	+	+	+

ISSN: 1471-2350