Corrigendum #2 to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”

Supplemental Table 1

Summary of 45 SGS patients with SKI gene mutations.

(a)
Doyle,et al. [2012]
Patient	1	2	3	4	5	6	7	8	9	10
SKI gene pathogenic variant	c.347G>A(p.Gly116Glu)	c.349G>C(p.Gly117Arg)	c.101G>A(p.Gly34Asp)	c.94C>G(p.Leu32Val)	c.94C>G(p.Leu32Val)	c.100G>A(p.Gly34Ser)	c.100G>T(p.Gly34Cys)	c.103C>T(p.Pro35Ser)	c.283_291del(p.Asp95_Ser 97del)	c.62T>G(p.Leu21Arg)
Inheritance	de novo	de novo	de novo	de novo	de novo	de novo	de novo	de novo	de novo	de novo
Gender	F	M	M	M	F	M	F	M	M	F
Age(Years)	43	6	16	12	22	21	2	6	5	4
Ocular findings	Hypertelorism,down-slanting eyes, proptosis	Hypertelorism,down-slanting eyes	Hypertelorism,down-slanting eyes, proptosis	Hypertelorism,down-slanting eyes, proptosis	Hypertelorism,down-slanting eyes, proptosis	Hypertelorism, proptosis	Hypertelorism,down-slanting eyes, proptosis	Hypertelorism,down-slanting eyes, proptosis	Hypertelorism,down-slanting eyes, proptosis	Hypertelorism,down-slanting eyes, proptosis
Dysmorphic features	+	+	+	+	+	+	+	+	+	+
Cardiac anomalies	Mitral value prolapse, aortic root dilatation	Mitral value prolapse, aortic root dilatation	Mitral value prolapse, aortic root dilatation	aortic root dilatation	aortic root dilatation	aortic root dilatation	aortic root dilatation	-	Mitral value prolapse	Mitral value prolapse, aortic root dilatation, arterial tortuosity
Musculoskeletal anomalies	+	+	+	+	+	+	+	+	+	+
Neurological anomalies	+	+	+	+	+	+	+	+	+	+
Developmental delay	+	+	+	+	+	+	+	+	+	+
Other	Splenic artery aneurysm	Broad/bifiduvula	Club foot deformity	Cleft palate			Cleft palate	Cleft palate, Club foot deformity, Splenic artery aneurysm with spontaneous rupture		Broad/bifiduvula