Kozlowski spondylometaphyseal dysplasia detected in low familial height

Abstract

Spondylometaphyseal dysplasia is a type of bone dysplasia characterized by vertebral and metaphyseal changes of varying severity. Diagnosis of the disease is difficult because the severity of bone involvement differs and symptoms change according to the age of the patient.
In this study, radiographic findings of a 3 years-old male patient and his father diagnosed as Kozlowski type spondylometaphyseal dysplasia is reported.