Table 4

Features of published cases of ARC syndrome

Reference	1	2		3, 4			5	6	7	8
Pedigree	1	1	2	1	2	3	1	1	1	1	2
Affected cases	2	1	2	2	1	2	4	4	2	2	2
Ethnic origin	Swiss	Pakistan	Asian	Italian	Italian	Italian	North African	Portugal	Lebanon
Consanguineous	+	+	+	+	−	−	−	+	+		+
Arthrogryposis	+	+	+	+	+	+	+	+	+	+/−	+/−
Neurogenic muscle change				+				+
Fanconi syndrome	+	+	+	+	+	+	+	+	+	+	+
Nephrogenic diabetes insipidus		+		+	+		+	+		+	+
Cholestasis	+	+	+	+	+	+	+	+	+	+
Lax skin			+
Ichthyosis				+					+	+	+/−
Sepsis/fevers					+	+	+
Diarrhoea		+					+
Failure to thrive	+	+	+	+	+	+	+	+	+	+	+

+, present; −, absent; blank, not mentioned; +/−, present in some affected members of pedigree but not others.