Akademik Veri Yönetim Sistemi
İskelet Displazileri, İlhan Sezgin, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.42-49, 2019
Skeletal dysplasias are a very large group of diseases with clinical and genetic heterogeneity.
Skeletal dysplasias with bone mineralization disorders are also included in this group. Similarly,
these diseases have very rich clinical, laboratory and genetic features. This diseases in which
various genes are responsible for etiology and have different hereditary characteristics. These patients
may exhibit a broad clinical spectrum ranging from asymptomatic to lethal. Usually the diagnosis is
made by clinical symptoms, radiological findings, biochemical and genetic analyzes. Skeletal dysplasias
with bone mineralization disorders are rare diseases. For this reason, it is often overlooked
in the diagnosis. Therefore, general information about skeletal dysplasias with bone mineralization
disorders is briefly mentioned and it is aimed to share current information in the literature.