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Updated: Sep 10, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
Published on: May 11, 2018
[Intraspinal rib penetration in four patients in neurofibromatosis vertebral deformities]
B Legrand1, G Filipe, A Blamoutier
1Service de Chirurgie Orthopédique et Réparatrice de l'Enfant, Hôpital Armand-Trousseau, 26, avenue du Docteur-Arnold-Netter, 75571 Paris Cedex 12.
Abstract:
We describe the clinical and radiological features observed in four patients with neurofibromatosis-related scoliosis or kyphoscoliosis who developed rib penetration into the intervertebral foraminae. Rib penetration should be searched for on standard and elective x-rays in patients with moderate curvatures. The diagnosis can be confirmed by computed tomography or magnetic resonance imaging of the spine. In case of major deviation, x-rays must be carefully examined, with an accurate search for spinal cord compression to avoid missing the diagnosis. Surgical treatment must consist in ablation of the posterior ends of the dislocated ribs associated with anterior and posterior fusion. It should be performed early to avoid the development of spinal cord compression.

