Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

Table 1 Patient criteria according to Nancy and Berry 1992 [2]

Clinical criteria		1	2	3	4	7	8	9
Major criteria	Post natal growth failure	+	+	+	+	+	+	+
	Progressive neurological dysfunction	+	+	+	+	+	+	+
Minor criteria	Cutaneous photosensitivity	+	+	+	+	-	-	-
	Peripheral neuropathy	-	ND	ND	ND	+	+	ND
	Pigmentary retinopathy and/or cataract	+	+	_	-	+	+	+
	SNHL	ND	?	ND	ND	+	+	ND
	Dental caries	+	?	+	+	+	+	+
	Characteristic physical appearance	+	+	+	+	+	+	+
	Family history	+	+	+	+	+	+	+

Patients 5 and 6 were excluded as the criteria do not apply to them (CS type II). ND: not done, SNHL: sensorineural hearing loss.

ISSN: 1750-1172