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Previously reported cases from European countries carry the W273L variant on at least one <jats:italic>GLB1<\/jats:italic> allele and exhibit a pure skeletal phenotype (<jats:italic>pure MBD<\/jats:italic>). Only a minority of MBD cases have been described with additional neuronopathic findings (<jats:italic>MBD plus<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives and Methods<\/jats:title><jats:p>With the aim to further describe patterns of MBD\u2010related dysostosis multiplex, we analyzed clinical, biochemical, and genetic features in 17 cases with <jats:italic>GLB1<\/jats:italic>\u2010related dysostosis multiplex living and diagnosed in Brazil.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>About 14 of the 17 individuals had three or more skeletal findings characteristic of Morquio syndrome. Two had no additional neuronopathic features (<jats:italic>pure MBD<\/jats:italic>) and 12 exhibited additional neuronopathic features (<jats:italic>MBD plus<\/jats:italic>). Three of the 17 cases had mild dysostosis without distinct features of MBD. Seven of the 12 <jats:italic>MBD plus<\/jats:italic> patients had signs of spinal cord compression (SCC), as a result of progressive spinal vertebral dysostosis. There was an age\u2010dependent increase in the number of skeletal findings and in the severity of growth impairment. <jats:italic>GLB1<\/jats:italic> mutation analysis was completed in 10 of the 14 <jats:italic>MBD<\/jats:italic> patients. T500A occurred in compound heterozygosity in 8 of the 19 alleles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study extends the phenotypic spectrum of GLB1\u2010related conditions by describing a cohort of patients with MBD and GM1\u2010gangliosidosis (<jats:italic>MBD plus<\/jats:italic>). Targeting the progressive nature of the skeletal manifestations in the development of new therapies for GLB1\u2010related conditions is warranted.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12211","type":"journal-article","created":{"date-parts":[[2021,3,8]],"date-time":"2021-03-08T10:19:56Z","timestamp":1615198796000},"page":"23-31","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Morquio\u2010like dysostosis multiplex presenting with neuronopathic features is a distinct <scp><i>GLB1<\/i><\/scp>\u2010related phenotype"],"prefix":"10.1002","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6542-423X","authenticated-orcid":false,"given":"Sylvia","family":"Stockler\u2010Ipsiroglu","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of British Columbia  Vancouver Canada"},{"name":"Division of Biochemical Genetics BC Children's Hospital  Vancouver Canada"},{"name":"BC Children's 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