TOTBİD Dergisi

TOTBİD Dergisi

2016, Cilt 15, Sayı, 4     (Sayfalar: 295-302)

Spinal pathologies associated with skeletal dysplasias –spinal problems of dysplasia

Hacı Mustafa Özdemir 1, Osman Yüksel Yavuz 2

1 Acıbadem Hastanesi, Ataşehir, İstanbul
2 Yüzyıl Hastanesi, Pendik, İstanbul

DOI: 10.14292/totbid.dergisi.2016.36
Görüntüleme: 534
İndirme : 430

Skeletal dysplasia is a heterogeneous group of diseases caused by anomalies in the growth and development of bone and/or cartilage. Although skeletal dysplasia is rare, it is quite common in pediatric orthopedics or spinal deformity clinics when taken as a group and occurs at 2,4 of 10,000 births. Most of the dysplasia manifests itself with a short height under two standard deviations of a mean age length at a significant age. In the 2010 classification of skeletal displasia, 456 different skeletal dysplasia were identified and 316 of them were found to be associated with a change in at least one of 226 different genes. Spinal manifestations are common in patients with skeletal dysplasia. Although most of them have unique spinal characteristics, there are many common features; so it is possible to discuss all of the 456 displasies in groups instead of individually. Among the skeletal dysplasia observed, chondroplasia, chondroplasia punctata, diastrophic dysplasia, Kniest dysplasia, Larsen syndrome, metaphyseal chondroplasia, metatrophic dwarfism, mucopolysaccharidoses, pseudoachondroplasia, spondyloepiphyseal dysplasia congenita and tarda, and spondyloepymetaphysial dysplasia can be considered as spinal deformities. The most common spinal anomalies include atlanto-axial instability and odontoid hypoplasia, cervical kyphosis, thoracolumbar kyphosis, scoliosis, foramen magnum stenosis and spinal stenosis.

Anahtar Kelimeler : skeletal dysplasia; scoliosis; thoracolumbar kyphosis; gibbus