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Table 2 Clinical Findings in Patients with CM-II and Sprengel’s Deformity

From: A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel’s deformity

Case Gender Clinical Observations Age at surgical MMC/SsD correction
1 F MMC, Left-SsD, Dextroconvex thoracic scoliosis, CM-II, Hypoplastic left thumb. 5 days/7 years
2 M MMC, Right-SsD, Sinistroconvex thoracolumbar Scoliosis CM-II, Hydrocephalus Fused Th3–4-5 vertebral bodies 3 days/6 years
3 F MMC, Right-SsD, Dextroconvex thoracolumbar scoliosis CM-II, Hydrocephalus Fused C7–Th1 vertebral bodies Fused right first to second ribs 2 days/ Not Applicable
This Case F MMC, Right-SsD, Mild thoracolumbar scoliosis, CM-II, No fused vertebral bodies or ribs observed, 2 years/7 years
  1. F female, M male, SsD Sprengel’s deformity, MMC myelomeningocele, CM-II Chiari type II malformation