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Childs Nerv Syst. 2013 Jul;29(7):1051-8. doi: 10.1007/s00381-013-2057-0.

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

Author information

1
Department of Neurosurgery, Maastricht University Medical Center, Oxfordlaan 10, 6229, EV, Maastricht, The Netherlands. j.van.aalst@mumc.nl.
2
Department of Child Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
3
Department of Child Neurology, Nijmegen University Medical Center, Nijmegen, The Netherlands.
4
Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.
5
Department of Child Neurology, Leiden University Medical Center, Leiden, The Netherlands.
6
Department of Orthopedic Surgery, Maastricht University Medical Center, Maastricht, The Netherlands.
7
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
8
Department of Neurosurgery, Maastricht University Medical Center, Oxfordlaan 10, 6229, EV, Maastricht, The Netherlands.

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.

KEYWORDS:

Embryology; Genetics; Jarcho–Levin syndrome; Spina bifida; Spinal dysraphism; Spondylocostal dysostosis

PMID:
23443469
DOI:
10.1007/s00381-013-2057-0
[Indexed for MEDLINE]
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