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Case #9010 - Caudal dysplasia, lumbosacral agenesis and situs inversus

Case #9010 - Caudal regression syndrome, lumbosacral agenesis and situs inversus

Synopsis

- situs inversus totalis

- caudal regression syndrome (CRS)
- segmental spinal dysgenesis (SSD)

  • lombosacral agenesis

- lower limb immotility sequence

  • lower limb pterygia
  • lower limb atrophy
  • lower limb flexion hypertony

See also

- vertebral segmentation defects
- congenital vertebral displacement
- caudal regression syndrome (CRS)

- vertebral agenesis

- spinal cord anomalies

- spinal dysraphisms

Candidate genes

- ZIC3 ? KIF3A ?

See also

- Case #10645: Caudal dysplasia with lombosacral agenesis

References