<b>Objectives:</b> 1. Present the use of a published algorithm for the evaluation and diagnosis of the pediatric patient with congenital skeletal dysplasia and abnormal skeletal survey. 2. Review usefulness of accurate, narrowed differential diagnosis or suspected single diagnosis in terms of confirmatory testing, treatment implications, and genetic counseling. 3. Demonstrate the utility of the algorithm when applied to recent, rare cases of congenital skeletal dysplasia at our institution, a tertiary trauma center and children’s hospital in the Northeastern United States. <b>Content:</b> We present a refined, algorithm-based approach to the evaluation and diagnosis of the pediatric patient with congenital skeletal dysplasia and abnormal skeletal survey. The algorithm optimizes evaluation of the skeletal survey in cases of congenital skeletal dysplasia, aiding in timely, accurate diagnosis. The utility of the refined algorithm is demonstrated as it was applied to recent, confirmed cases of rare skeletal dysplasias at our institution, including metatropic dysplasia and cleidocranial dysplasia. <b>Teaching Message:</b> Evaluation of the pediatric patient with congenital skeletal dysplasia and abnormal skeletal survey can be challenging, even for the subspecialty-trained radiologist. By assessing the presence or absence of discriminating imaging features and findings on skeletal survey, the interpreting radiologist can significantly shorten the differential diagnosis or in many cases suggest a single, most-likely primary diagnosis. Narrowing the differential diagnosis is helpful in guiding confirmatory molecular or genetic testing. Timely, accurate diagnosis may have significant treatment and prognostic implications for patients and their families. Read More

Meeting name: SPR 2019 Annual Meeting & Postgraduate Course , 2019

Authors: Hook Marcus, Higgins Timothy, Hildebrand Andrea, Sussman Betsy, Burke Leah

Keywords: genetic, dysostosis, dwarfism