Corrigendum #2 to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”
In the article titled “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review” [1], the authors have identified additional errors that require correction. These errors are resulting from the misinterpretation of data obtained from Doyle et al. [2].
Supplemental Table 1(a) should be corrected as follows: to remove “ectopia lentis” from patients 4, 7, and 8.
| (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 | |||
In the Discussion section, the sentence, “though ectopia lentis was reported in three patients, our patient did not exhibit any degree of apparent lens dislocation,” should be deleted. In the abstract, “Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis” should be changed to “Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, and myopia.”
