Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

摘要: Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage bone. A large subgroup GSDs has additional involvement other structures/organs beside the skeleton, such as central nervous system (CNS). CNS abnormalities have important role long-term prognosis children with should consequently not be missed. Sensitive specific identification lesions while evaluating child GSD requires detailed knowledge possible associated abnormalities. Here, we provide pattern-recognition approach for neuroimaging findings guided obvious manifestations GSD. In particular, summarize which ruled out each The diseases (n = 180) classified based on (1. abnormal metaphysis or epiphysis, 2. size/number bones, 3. shape bones joints, 4. dynamic structural changes). For disease, was defined accordance Online Mendelian Inheritance Man. Morphological been described extensive literature search. Selected examples will shown prevalence significance involvement. is common GSDs. wide spectrum morphological Early diagnosis management This aims to assist guide physicians diagnostic work-up their management.