The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study.

Autor:	Al Kaissi A; Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and, AUVA TraumaCentre Meidling, First Medical Department, Hanusch Hospital.; Orthopaedic Hospital of Speising- Pediatric Department, Vienna, Austria., Ryabykh S; Division Spine Pathology and Rare Diseases, Russian Scientific Ilizarov Center, Kurgan, Russia., Pavlova OM; Division Spine Pathology and Rare Diseases, Russian Scientific Ilizarov Center, Kurgan, Russia., Ochirova P; Division Spine Pathology and Rare Diseases, Russian Scientific Ilizarov Center, Kurgan, Russia., Kenis V; Pediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Saint-Petersburg, Russia., Chehida FB; I bn Zohr Institute of Radiology, Tunis, Tunisia., Ganger R; Orthopaedic Hospital of Speising- Pediatric Department, Vienna, Austria., Grill F; Orthopaedic Hospital of Speising- Pediatric Department, Vienna, Austria., Kircher SG; Department of Medical Chemistry, Medical University of Vienna, Vienna, Austria.
Jazyk:	angličtina
Zdroj:	Medicine [Medicine (Baltimore)] 2019 Jan; Vol. 98 (1), pp. e13780.
DOI:	10.1097/MD.0000000000013780
Abstrakt:	Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with single base substitutions, deletions or duplication of part of the COL2A1 gene (6 patients out of ten have been sequenced). Cervical spine radiographs showed apparent atlantoaxial instability in correlation with odontoid hypoplasia or os-odontoideum.Instability of 8 mm or more and or the presence of symptoms of myelopathy were the main indications for surgery. Posterior cervical fusion from the occiput or C1-3, decompression of C1-2 and application of autorib transfer followed by halo vest immobilization have been applied accordingly.Orthopedic management of children with spondyloepiphyseal dysplasia congenita (SEDC) should begin with the cervical spine to avoid serious neurological deficits and or mortality.
Databáze:	MEDLINE
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