{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:18:59Z","timestamp":1760782739241},"reference-count":9,"publisher":"FapUNIFESP (SciELO)","issue":"3B","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2002,9]]},"abstract":"<jats:p>We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. The muscle biopsy revealed minimal but identifiable changes represented by size fiber variability, type I fiber predominance and atrophy, perimysial fibrous infiltration and some disarray of the intermyofibrillary network. These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia.<\/jats:p>","DOI":"10.1590\/s0004-282x2002000500011","type":"journal-article","created":{"date-parts":[[2005,4,15]],"date-time":"2005-04-15T10:32:55Z","timestamp":1113561175000},"page":"739-741","source":"Crossref","is-referenced-by-count":8,"title":["King-Denborough Syndrome: report of two Brazilian cases"],"prefix":"10.1590","volume":"60","author":[{"given":"Umbertina Conti","family":"Reed","sequence":"first","affiliation":[{"name":"University of S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Bernardete Dutra","family":"Resende","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00facio Gobbo","family":"Ferreira","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Souza","family":"Carvalho","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aron","family":"Diament","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milberto","family":"Scaff","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suely Kazue Nagahashi","family":"Marie","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo,  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