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. 2021 Aug 28;2021:9897523. doi: 10.1155/2021/9897523

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

Jamie H Choi 1, Rachel Li 2, Rachel Gannaway 2, Tahnee N Causey 2, Anna Harrison 3, Natario L Couser 2,3,4,
PMCID: PMC8424239  PMID: 34513099

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.

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

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.”

References

  • 1.Jamie H. C., Rachel L., Rachel G., Tahnee N. C., Anna H., Natario L. C. Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review. Case Reports in Genetics. 2020;2020 doi: 10.1155/2020/7353452.7353452 [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 2.LopezCourcet A. J., Doyle J. J., Bessling S. L., et al. Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm. Nature Genetics. 2012;44(11):1249–1254. doi: 10.1038/ng.2421. [DOI] [PMC free article] [PubMed] [Google Scholar]

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