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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Clinical case</span><p id="par0005" class="elsevierStylePara elsevierViewall">A twenty-six-year-old woman&#44; with arthralgia and crepitation in her hands&#44; feet and knees&#44; and longstanding camptodactyly&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;2</span></a><span class="elsevierStyleItalic">Personal history</span>&#58; bilateral myopia&#44; retinal vitreous degeneration and sensorineural hearing loss since childhood&#46; <span class="elsevierStyleItalic">Family history</span>&#58; polyarthralgia&#44; ophthalmological anomalies &#40;retinal vitreous degeneration&#44; retinal detachment&#44; myopia and cataracts&#41;&#44; hearing loss&#44; scoliosis and similar phenotype in the paternal line<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">3&#44;4</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; Physical examination revealed marfanoid habitus&#44; standard size&#44; scoliosis&#44; joint hyperlaxity &#40;non-cutaneous&#41;&#44;<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> particular facial features &#40;mediofacial hypoplasia&#44; ocular proptosis&#44; depressed nasal bridge&#44; macrognathia&#41;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">6</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>A and B&#41; and elongated fingers and toes with camptodactyly<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>D&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Diagnosis&#47;progress</span><p id="par0010" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Blood tests</span>&#58; ESR 10<span class="elsevierStyleHsp" style=""></span>mm&#47;1st hour&#44; CRP &#46;3 &#40;&#60;&#46;5<span class="elsevierStyleHsp" style=""></span>mg&#47;dl&#41;&#59; normal haemogram and TSH&#47;T4L&#44; RF&#47;negative autoimmunity &#40;ANA&#44; ENA&#44; ANCA&#44; ACPA&#41;&#46; <span class="elsevierStyleItalic">Radiology</span>&#58; scoliosis&#44; increased metacarpal length &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>C&#41;&#46; Normal knee MRI and echocardiography&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Given the possibility of hereditary collagenopathy we contacted the medical genetics department&#44; who suspected Stickler syndrome&#44; autosomal disease &#40;AD&#41;&#44; dominant and progressive&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;9</span></a> A molecular study of implicated genes was requested&#58; COL2A1&#44; COL11A1 and COL11A2&#44;<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">3&#44;4&#44;8&#8211;10</span></a> by means of next-generation sequencing &#40;NGS&#41; panel with detection of pathogenic heterozygous variant &#40;not described&#41; c&#46;598C&#62;T &#40;p&#46;Gln200&#41; of the COL2A1 gene&#46; Compatible familial segregation analysis &#40;parents&#47;siblings&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">3&#44;8&#8211;10</span></a></p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Discussion</span><p id="par0020" class="elsevierStylePara elsevierViewall">Stickler syndrome &#40;OMIM&#58; <a href="omim:108300">108300</a>&#41; is a hereditary and progressive connective tissue disorder characterised by skeletal abnormalities &#40;arthralgia&#44; joint hyperlaxity and scoliosis&#41;&#44; ocular abnormalities &#40;early-onset myopia&#44; strabismus&#44; cataract and retinal detachment&#41;&#44; craniofacial abnormalities &#40;midface hypoplasia&#44; broad&#47;flattened nasal bridge&#44; cleft palate and macro&#47;retrognathia&#41; and sensorineural hearing loss&#46;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2&#44;5&#8211;8&#44;10</span></a> With an estimated incidence of 1&#47;7500&#44; this is a rare congenital collagenopathy&#44; caused by mutation of the COL2A1 AD gene&#44; of variable expressivity&#44; even within the family&#46;<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">7&#8211;10</span></a> In spite of the time available in consultations&#44; it is essential to take an adequate history in our routine practice&#46; A personal and family history of ophthalmopathy and deafness&#44; together with close collaboration with medical genetics were determining factors in the correct diagnosis&#44; prognosis and final treatment of the patient and her family&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Conflict of interests</span><p id="par0025" class="elsevierStylePara elsevierViewall">The authors have no conflict of interests to declare&#46;</p></span></span>"
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