Case Reports in Genetics

Case Report

Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review

Table 1

Summary of 45 SGS patients with SKI gene mutations. A more detailed description can be found in Supplementary Materials.
Patient123456789101112131415161718192021222324252627282930313233343536373839404142434445
Inh.dndndndndndndndndndndndndndndndndndndndndnnkdndndnnknknkaddndnnknknkdndndndnnkdngmgmdndndn
Age43616122221265421204211441314222220181652110113220264635044541010121691322nk1025
Eye+++++++++++++++++++++++++++++++++++++++++++nk+
Dysm+++++++++++++++++++++++++++++++++++++++++++−−+
Cardiac+++++++−++−−−−−−−−−−+−−++++−−+−−nknk−−−−+++−−nk+
MSK+++++++++++++++++++++++++++++++++++++++++++++
Neuro+++++++++++++++++++++++++++++++++++nknk+nknknknk+++
DD+++++++++++++++++++++++++++++++++++++++++−+nknk
Inh., inheritance; Eye, ocular findings; Dysm, dysmorphic features; Cardiac, cardiac anomalies; MSK, musculoskeletal anomalies; Neuro, neurological anomalies; DD, developmental delay; ad, autosomal dominant; dn, de novo; gm, germline mosaicism; nk, not known.