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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