{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T22:27:54Z","timestamp":1788820074906,"version":"build-2803163510"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,7,9]],"date-time":"2020-07-09T00:00:00Z","timestamp":1594252800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,7,9]],"date-time":"2020-07-09T00:00:00Z","timestamp":1594252800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["JA Clin Rep"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Schwartz\u2013Jampel syndrome (SJS) is a very rare inherited disorder characterized by multiple skeletal deformities, limited joint mobility, micrognathia, blepharophimosis, myotonia, and growth retardation. SJS is caused by mutations in the gene encoding perlecan (heparan sulfate proteoglycan). Anesthetic management of these patients is challenging. The use of spinal anesthesia in these patients has not been reported.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>A 14-year-old boy was scheduled for inguinal hernia and hydrocele repair. The diagnosis of SJS was based on his dysmorphic features, electromyographic (EMG) pattern and genetic testing. General anesthesia may encounter difficult airway management, resistance to muscle relaxants, or possibility of malignant hyperthermia. Regional anesthesia may be difficult or even harmful due to skeletal deformities. We report successful management of spinal anesthesia and surgery was done. The patient had an uneventful recovery and was discharged home. We describe the special precautions against pitfalls for using this technique in patients with SJS.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>Spinal anesthesia may be an effective and safe technique for patients with SJS and it may<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s40981-020-00357-0","type":"journal-article","created":{"date-parts":[[2020,7,9]],"date-time":"2020-07-09T15:10:49Z","timestamp":1594307449000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Spinal anesthesia in a patient with Schwartz\u2013Jampel syndrome"],"prefix":"10.1186","volume":"6","author":[{"given":"Osama","family":"Shaalan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Daoud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6361-7943","authenticated-orcid":false,"given":"Ashraf","family":"EL-Molla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashed","family":"Al-Otaibi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulaleem","family":"Alatassi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,7,9]]},"reference":[{"key":"357_CR1","unstructured":"Catel W. Differential-diagnostische symptomatologie von krankheiten des kindersalters in George Thieme Verlag 2nd ed. 1951; 48-51."},{"key":"357_CR2","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1001\/archopht.1962.00960030056011","volume":"68","author":"O Schwartz","year":"1969","unstructured":"Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophtalmol. 1969;68:52\u20137.","journal-title":"Arch Ophtalmol"},{"key":"357_CR3","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1038\/82638","volume":"26","author":"S Nicole","year":"2000","unstructured":"Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). 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A copy of the written consent is available for review by the Editor of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"51"}}