Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Table 1 Comparison of selected clinical features in WS vs non-WS patients with 3q deletions

	WS (n = 12)*	Non-WS (n = 15)*
Core gestaltic features
Coarse facies	12 (100%)	0
Prominent or wide triangular shaped nasal tip	12 (100%)	3 (20%)
High arched or upsweeping eyebrows	11 (92%)	0
Full/everted lower lip	11 (92%)	5 (33%)
Bushy eyebrows	10 (83%)	3 (20%)
Other recurrent clinical features
Developmental delay/intellectual disability	12 (100%)	15 (100%)
Digital anomalies:	10 (83%)	6 (40%)
-of which short IV metatarsus	4 (33%)	0
Ear anomalies	9 (75%)	13 (87%)
Macrostomia	8 (67%)	1 (7%)
Smooth/simplified philtrum	7 (58%)	7 (47%)

*Identification codes, detailed clinical features, cytogenetic characterization and references for patients with and without WS are given in Additional file 1: Table S1.

ISSN: 1750-1172