{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T09:33:41Z","timestamp":1780392821313,"version":"3.54.1"},"reference-count":0,"publisher":"PAGEPress Publications","issue":"2","license":[{"start":{"date-parts":[[2016,6,27]],"date-time":"2016-06-27T00:00:00Z","timestamp":1466985600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Med Chir"],"abstract":"<jats:p>In the present paper we report on a case of oculo-auriculo-vertebral spectrum presenting fluorescence &lt;em&gt;in situ&lt;\/em&gt; hybridization and comparative genomic hybridization tests negative, hypotonia of some branchiomeric muscles (with velo-pharyngeal insufficiency, dysphagia and nasal voice) and non-branchiomeric muscles (with strabismus and limb hypotrophy). On the basis of the left quadriceps muscle biopsy, showing anisometry and prevalence of type 1 fibers, and on literature data, we underline the relevance of &lt;em&gt;TBX1&lt;\/em&gt; gene (regulator of neural crest cells and activator of myogenic factors in branchiomeric muscles development) and of &lt;em&gt;PAX3&lt;\/em&gt; gene (present in neural crest, inducing migration of these cells and reported in non-branchiomeric muscles). We conclude that the case of OAVS presented a generalized myopathy and we hypothesize that a cluster of genes strictly neural crest cells related, including &lt;em&gt;TBX1&lt;\/em&gt; and &lt;em&gt;PAX3&lt;\/em&gt;, may be responsible of the branchiomeric and non-branchiomeric myopathy; alternatively, a regulatory mechanism abnormally common to OAVS and velo-cardio-facial syndrome could be present.<\/jats:p>","DOI":"10.4081\/pmc.2016.121","type":"journal-article","created":{"date-parts":[[2016,6,28]],"date-time":"2016-06-28T04:38:26Z","timestamp":1467088706000},"source":"Crossref","is-referenced-by-count":4,"title":["Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy"],"prefix":"10.4081","volume":"38","author":[{"given":"Giovanni","family":"Murialdo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attilia","family":"Piazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Badolati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Calcagno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agostino","family":"Berio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2549","published-online":{"date-parts":[[2016,6,27]]},"container-title":["La Pediatria Medica e Chirurgica"],"original-title":[],"link":[{"URL":"http:\/\/www.pediatrmedchir.org\/index.php\/pmc\/article\/viewFile\/121\/116","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2016,6,28]],"date-time":"2016-06-28T04:38:31Z","timestamp":1467088711000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.pediatrmedchir.org\/index.php\/pmc\/article\/view\/121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,27]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2016,6,27]]}},"URL":"https:\/\/doi.org\/10.4081\/pmc.2016.121","relation":{},"ISSN":["2420-7748","0391-5387"],"issn-type":[{"value":"2420-7748","type":"electronic"},{"value":"0391-5387","type":"print"}],"subject":[],"published":{"date-parts":[[2016,6,27]]}}}