Abstract
Background and purpose
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.
Patients and methods
Databases from four university medical centers were searched for children presenting between 1992 and 2012 with spinal dysraphism and a Sprengel’s deformity.
Conclusion
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.
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van Aalst, J., Vles, J.S.H., Cuppen, I. et al. Sprengel’s deformity and spinal dysraphism: connecting the shoulder and the spine. Childs Nerv Syst 29, 1051–1058 (2013). https://doi.org/10.1007/s00381-013-2057-0
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DOI: https://doi.org/10.1007/s00381-013-2057-0