Table 2 Clinical manifestations in patients with Noonan syndrome with SOS1 and PTPN11 mutations.

		Patients with:
		SOS1 mutations								PTPN11 mutations
		Present study		Tartaglia et al.12		Roberts et al.11		Total		Combined data†
Pulmonic stenosis		20/25		10/16		11/15		41/56 (73%)		125/171 (73%)
Hypertrophic cardiomyopathy		1/25		2/16		3/15		6/56 (11%)		10/171 (6%)
Atrial septal defect		4/25		4/16		2/15		10/56 (18%)		41/170 (24%)
Thorax deformity		17/24		16/16		ND		33/40 (83%)*		110/171 (64%)
Easy bruising		3/25*		5/16		5/15		13/56 (23%)*		46/90 (51%)‡
Mental retardation/need for special education		5/24*		1/16		3/11		9/51 (18%)*		71/164 (43%)
Short stature (<3rd centile)		13/25		2/15		4/13		19/53 (36%)*		122/171 (71%)
Cryptorchidism		5/11*		ND		5/10		10/21 (48%)*		75/94 (80%)

ND, no data.

*p<0.05 (Fisher's exact test); †combined data from four large studies: Tartaglia et al,²¹ Musante et al,²² Zenker et al,¹⁷ and Jongmans et al²³; ‡data available only from two of four studies.