Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine

J. van Aalst*, J. S. H. Vles, I. Cuppen, D. A. Sival, E. H. Niks, L. W. Van Rhijn, M. A. M. Van Steensel, E. M. J. Cornips

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Sprengel's deformity, a rare congenital malformation of the scapula, may be observed in combination with spinal dysraphism. The co-occurrence of these malformations suggests an unknown shared etiology. Therefore, we reviewed the medical records of eight children presenting with both malformations and performed a review of the literature. Databases from four university medical centers were searched for children presenting between 1992 and 2012 with spinal dysraphism and a Sprengel's deformity. The combination of spinal dysraphism and Sprengel's deformity is rare, and is associated with segmentation defects of the spine and ribs. Although the etiology of both spinal dysraphism and Sprengel's deformity remains unclear, all deformities of the spine, ribs, and shoulder might result from a common genetic defect affecting somitogenesis.
Original languageEnglish
Pages (from-to)1051-1058
JournalChild's Nervous System
Issue number7
Publication statusPublished - Jul 2013


  • Spinal dysraphism
  • Spina bifida
  • Embryology
  • Genetics
  • Spondylocostal dysostosis
  • Jarcho-Levin syndrome

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