title: Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Databases from four university medical centers were searched for children presenting between 1992 and 2012 with spinal dysraphism and a Sprengel's deformity.
  
  
  CONCLUSIONS
  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.
authors: Department of Neurosurgery, Maastricht University Medical Center, Oxfordlaan 10, 6229, EV, Maastricht, The Netherlands. j.van.aalst@mumc.nl.
authors: J
authors: J
authors: van Aalst
authors: Department of Child Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
authors: J S H
authors: JS
authors: Vles
authors: Department of Child Neurology, Nijmegen University Medical Center, Nijmegen, The Netherlands.
authors: I
authors: I
authors: Cuppen
authors: Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.
authors: D A
authors: DA
authors: Sival
authors: Department of Child Neurology, Leiden University Medical Center, Leiden, The Netherlands.
authors: E H
authors: EH
authors: Niks
authors: Department of Orthopedic Surgery, Maastricht University Medical Center, Maastricht, The Netherlands.
authors: L W
authors: LW
authors: Van Rhijn
authors: Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
authors: M A M
authors: MA
authors: Van Steensel
authors: Department of Neurosurgery, Maastricht University Medical Center, Oxfordlaan 10, 6229, EV, Maastricht, The Netherlands.
authors: E M J
authors: EM
authors: Cornips
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000196:embryology; D002648:Child; D002675:Child, Preschool; D003025:Clubfoot; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000196:embryology; D005260:Female; D006391:Hemangioma; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008591:Meningomyelocele; D009426:Netherlands; D012540:Scapula / Q000002:abnormalities* / Q000196:embryology; D012782:Shoulder / Q000196:embryology; D012785:Shoulder Joint / Q000002:abnormalities* / Q000196:embryology; D012878:Skin Neoplasms; D016135:Spinal Dysraphism / Q000175:diagnosis* / Q000196:embryology; D013131:Spine / Q000196:embryology; D013595:Syringomyelia; D014057:Tomography, X-Ray Computed
keywords: Embryology; Genetics; Jarcho–Levin syndrome; Spina bifida; Spinal dysraphism; Spondylocostal dysostosis