Skeletal dysplasia are rare genetic disorders that cause abnormal bone, cartilage, joint and neurologic development. Red flags include disproportionately short stature, bowing of the legs, kyphosis and radiographic findings of bilateral Perthes Disease.
In this video, pediatric orthopedic surgeon Klane White, MD, explains common skeletal dysplasia and the best practices for identifying them. He details the steps of a proper clinical workup, including a thorough history and system review, skeletal survey and segment measurements.
“Physical exam and skeletal survey are critical to narrowing the diagnosis and help guide the diagnostic testing,” notes Dr. White. “Which, at this point, includes most importantly a gene panel for skeletal dysplasia, but may include urine substrate analysis or enzyme testing.”
There are more than 400 types of skeletal dysplasia, and Dr. White reviews some of the most common types. Learn more from Dr. White as he shares the guidelines for referring a patient for further genetic testing and strategies for identifying these conditions.
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