Chondrodysplasia punctata (CDP) is a heterogeneous disease with multiple syndromic types and characterization of the CDP subtype is important for prognostic purposes. The aim of this study is to provide information about brachytelephalangic CDP, discuss its radiographic findings and emphasize the importance of cervical spine findings. Physicians must be aware of the potentially serious complications of CDP especially its cervical spine findings. In order to prevent morbidity and mortality, early imaging with CT and MRI is recommended.

Keywords: MRI, brachytelephalangic, chondrodysplasia punctata, myelomalacia