TOTBİD Dergisi

TOTBİD Dergisi

2016, Cilt 15, Sayı, 4     (Sayfalar: 247-278)

Overall evaluation of skeletal dysplasias

Pelin Özlem Şimşek Kiper 1, Yasemin Alanay 2

1 Hacettepe Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Pediatrik Genetik Bilim Dalı, Ankara, Türkiye
2 Acıbadem Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Pediatrik Genetik Bilim Dalı, İstanbul, Türkiye

DOI: 10.14292/totbid.dergisi.2016.33
Görüntüleme: 221
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İndirme : 831

The genetic disorders of the skeleton are a genetically and clinically heterogeneous group of disorders. Within this group, osteochondrodysplasias (skeletal dysplasias) have an important place, and generally arise from the defects in structural proteins, metabolic processes, or growth plate regulation and affect the development and growth of cartilage and/or bone. Cartilage and bone are the primary sites of involvement in skeletal dysplasias, however, muscle, tendon and ligaments may also be affected. Although each skeletal dysplasia is relatively rare, collectively the birth incidence of these disorders is almost 1/5000. However, in countries with a high consanguineous marriage rate, such as Turkey, the prevalence of skeletal dysplasia might be higher than the prevalence reported in the literature. In the 2015 revision of the Nosology and Classification of Genetic Skeletal Disorders of `International Skeletal Dysplasia Society` there are 436 entities classified under 42 groups primarily on the basis of clinical, radiographic, and molecular criteria with mutations in one or more of 364 genes. In this review, basic knowledge about the skeleton system will be reviewed and a systematic approach to a patient with suspected skeletal dysplasia will be described.

Anahtar Kelimeler : skeletal dysplasias; disproportionate short stature