PAX3 gene deletion detected by microarray analysis in a girl with hearing loss

Table 1 Review of clinical features present in our patient and in patients with CDHS or variant WS1 reported in the literature

Phenotype	Present case	Sommer and Bartholomew[7]	Gad et al.[1]
Flat facial profile	-	+	+
Hypertelorism	+	+	+
Downslanting palpebral fissures	+	+	+
Heterochromia of irides	-	-	-
Synophrys	+	-	-
Depressed nasal bridge	-	+	+
Contractures of digits	-	+	+
Hirsutism	+	-	-
Normal intelligence	+	+	+
Hearing loss	+	+	+
Pigmentation abnormalities	-	-	-
Dystopia canthorum	+	-	-
Brilliant blue irides	+	-	-

ISSN: 1755-8166