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Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans

Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans,10.1111/j.1749-6632.2008.03452.x,Annals of The New

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    • ...Children may have infantile idiopathic scoliosis with no other associated comorbidities or may have a primary thoracic insufficiency with severe pulmonary problems, as is present, for example, in Jarcho‐Levin syndrome [24, 25]...

    Behrooz A. Akbarniaet al. Fusionless procedures for the management of early-onset spine deformit...

    • ...Although there have been no recent relevant advances in the diagnosis or in treatment of scoliosis [11], we expect an ongoing steep increase in scoliosis-related publications in the near future...

    Karin Vitzthumet al. Scoliosis: density-equalizing mapping and scientometric analysis

    • ...A 1-month-old boy, previously healthy except for dysmaturity, was referred with upper limb weakness of 1-week duration.The gestational period was uneventful and the child was vaginally delivered without complications. Repetitive prenatal ultrasounds were normal.Neurological evaluation on admission was normal except for a flaccid paresis of both arms. Dysmorphic abnormalities were absent. Body weight was 3,340 g, length was 19.7 inches and head circumference measured 13.98 inches. The boy had no fever and laboratory tests were unremarkable. Chest X-ray was normal.Several diagnoses were withheld: insidious delivery trauma or late traumatic injury, traumatic cervical spine fracture or dislocation, bilateral brachial plexus injury, spinal cord neoplasia, congenital myopathy and dystrophy or congenital spine malformations.Cervical X-ray showed marked C3–C6 kyphosis and retrotracheal soft tissue edema. Electromyography of the triceps muscle revealed lowered muscular tension, potentials higher than 1,500 μV and normal nerve transmission.Two days after admission, progressive hypoxemia and hypercapnia developed necessitating orotracheal intubation and mechanical ventilation. Plain chest X-ray revealed an abnormally elevated right hemidiaphragm, suggesting right phrenic nerve paralysis (fig. 1).
      1Fig. 1. Plain chest X-ray. Elevated right hemidiaphragm, suggesting right phrenic nerve paralysis.F01
      Computed tomography imaging confirmed these findings and also showed extreme narrowing of the cervical spinal canal. Magnetic resonance imaging reinforced the diagnosis of anterior spinal cord compression due to congenital cervical kyphosis (fig. 2). When specifically asked, the boy’s mother admitted the occurrence of flaccid paresis and paresthesia in her upper legs as well as the presence of spine deformities with spastic tetraplegia in an aunt. Subsequently the boy’s neck was immobilized by a stiff neck and later by a thermoplastic body splint (fig. 3). Despite maximal immobilization, the use of continuous positive airway pressure and intravenous methylprednisolone, multiple extubation attempts failed and the infant died 4 weeks after admission.
      2Fig. 2. Sagittal T2-weighted MRI. Extreme narrowing of the cervical spinal canal.F02
      3Fig. 3. Neck immobilization by a thermoplastic body splint.F03
      DiscussionCongenital Spine Anomalies May Occur from Conception to DeliveryNormal spine embryogenesis begins when cells migrate from the somite towards the notochord and the neural tube. The ventromedial sclerotome cells migrate towards the embryologic midline and surround the neural tube and notochord. These cells are the precursors of the vertebral arch and body. Each sclerotome cell divides in a cranial and a caudal part. The spinal nerves leave the neuronal tube and migrate to the sclerotome center where they innervate the myotomes [...

    Viola Van Gorpet al. Congenital Cervical Kyphosis in a Child Associated with Tetraparesis: ...

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