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Case report
Bilateral subtrochanteric femoral fracture due to a very rare disease: Pycnodisostosis
Fractura bilateral subtrocantérica de fémur debido a una enfermedad rara: la picnodisostosis
A. Delgado González
Corresponding author
alberto.delgado.med@gmail.com

Corresponding author.
, J.J. Morales Viaji, M.E. López Díez
Servicio de Cirugía Ortopédica y Traumatología, Hospital Universitario de Burgos, Burgos, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Pycnodisostosis is a rare autosomal recessive disease caused by a mutation in the cathepsin K enzyme gene&#44;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> a protease that is expressed primarily in osteoclasts and is responsible for bone matrix degradation&#46; The presentation is usually accompanied by short stature osteosclerosis&#44; craniofacial dysmorphia and bone fragility&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Some papers provide surgical options for fractures of long bones in this type of patients but none are presented in the literature of our environment&#46;<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#8211;5</span></a> The case presented is of a middle-aged male with bilateral femoral fracture treated by intramedullary nailing&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical case</span><p id="par0010" class="elsevierStylePara elsevierViewall">A 38-year-old Caucasian European suffered a fall down a staircase and presented with a subtrochanteric fracture of the right femur with pain and external rotation&#46; On physical examination he presented short statue&#44; small hands and feet and typical facial characteristics&#46; No organomegalia was present nor changes to the blood&#44; as have been described in other cases&#46; The patient had no history of having suffered from any other fracture in the past&#46; Of note is the fact that his brother had presented with multiple fractures throughout his life due to the same disease&#44; and genetic diagnosis was therefore available in both patients since childhood&#44; with no need for further testing to be performed&#46; After the radiologic study a displaced subtrochanteric fracture of the right femur was discovered and a coincidental finding of an incomplete subtrochanteric fracture of the left femur which had not led to pain or any other symptoms in that limb &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Due to the baseline disease intramedullary nailing was planned initially&#44; in accordance with the literature&#44; bearing in mind the narrowness of the medullary canal and the possibility of having to implant flexible paediatric intramedullary nails as an alternative&#46; Surgery was performed under spinal anaesthesia and beginning with the right femur&#44; which was treated with a 340&#8239;&#215;&#8239;9&#8239;mm Recon nail &#40;Stryker&#44; Portage&#44; Minnesota&#44; U&#46;S&#46;A&#46;&#41;&#44; two 85&#8239;mm cephalic nails and a 65&#8239;mm distal static nail&#46; The left femur was synthesized during the same operation with another 340&#8239;&#215;&#8239;9&#8239;mm recon nail &#40;Stryker&#44; Portage&#44; Minnesota&#44; U&#46;S&#46;A&#46;&#41; and two 80 and 90&#8239;mm cephalic nails&#59; in this case no distal nail was used&#46; It is very important to point out that the reaming of both medullary canals was extremely difficult due to the bone hardness&#44; with one of the drills even breaking&#46; No other immediate complications arose nor was there any need for transfusion&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">The day after the intervention the patient was able to walk with the help of two crutches&#46; Six months after the accident the patient has returned to work with no complications&#46; The right femur was completely cured whilst the left remained without complete consolidation in some points&#46; One year after the accident total recovery of both fractures was observed and the patient lived a completely normal life &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46;2</a>&#41;&#46; In our case in question there were no complications in either the immediate postoperative period nor subsequently&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0025" class="elsevierStylePara elsevierViewall">Pycnodisostosis is a rare disease&#44; affecting 0&#46;13&#47;100&#44;000 inhabitants &#40;prevalence of Down&#8217;s syndrome is 95&#47;100&#44;000&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> Age range at diagnosis in the literature varied from 9 months to 54 years&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Most patients had been previously diagnosed with hepatosplenomegalia and&#47;or changes to the blood such as chronic anaemia&#46; The most common complication in this type of patients is delayed bone consolidation&#46; Cases of pseudo osteoarthritis&#44; avascular necrosis&#44; fat embolism and other surgical conditions have also been described&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;7&#44;9</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">There are other metabolic diseases which can cause atypical femoral fractures&#44; such as imperfect osteogenesis&#44; hypophatasia&#44; X-bound osteoporosis&#44; osteopetrosis&#44; X-linked hypophosphatemia&#44; osteoporosis pseudolioma syndrome&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> Several authors describe the problems they found when inserting an intramedullary nail due to bone sclerosis&#46; Kundu et al&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> reported good results regarding recovery and functionality with the endomedullary nail after two years of follow-up&#44; but found there were similar difficulties to ours with osteosynthesis&#46; Due to these difficulties in 2015 Hasem et al&#46; described a successful case treated with plate and nails in this type of fractures although they assumed it could not be extrapolated to all patients&#44; so they concluded that intramedulallary nailing is the best way to treat this type of fractures in patients with pycnodisostosis&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Whilst osteopetrosis is associated with a high risk of complications&#44; such as aplastic anaemia or hydrocephalus&#44; patients with pycnodisostosis do not usually undergo these risks&#46; The case presented had a complete clinical recovery eight months after the accident&#46; Although the pycnodisostosis is a very rare disease we should be cautious about it because an atypical femoral fracture pattern in young people should make us suspect a metabolic bone disease&#46; To conclude&#44; in our opinion&#44; in keeping with the literature consulted intramedullary nailing of long bones is a favourable treatment for this type of patients &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>&#41;&#46;</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia></span></span>"
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          "identificador" => "sec0010"
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        6 => array:2 [
          "identificador" => "sec0015"
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        7 => array:1 [
          "titulo" => "References"
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    "tienePdf" => true
    "fechaRecibido" => "2019-11-15"
    "fechaAceptado" => "2021-01-13"
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        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Pycnodysostosis is a rare autosomal recessive disease caused by a mutation in the cathepsin K enzyme gene&#44; a protease that is expressed primarily in osteoclasts and is responsible for bone matrix degradation&#46; The presentation is usually accompanied by short stature&#44; osteoesclerosis&#44; craniofacial dysmorphia and bone fragility&#46; Some papers provide surgical options for fractures of long bones in this type of patients&#44; but none are presented in European Caucasian patients&#46; The case presented is of a Spanish Caucasian European male with bilateral femoral fracture treated by endomedular nailing&#46;</p></span>"
      ]
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        "titulo" => "Resumen"
        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">La picnodisostosis es una rara enfermedad autos&#243;mica recesiva causada por una mutaci&#243;n en el gen de la enzima catepsina K&#44; una proteasa que se expresa fundamentalmente en los osteoclastos y que es responsable de la degradaci&#243;n de la matriz &#243;sea&#46; La presentaci&#243;n suele ir acompa&#241;ada de talla baja&#44; osteoesclerosis&#44; dismorfia craniofacial y fragilidad &#243;sea&#46; Algunos art&#237;culos aportan las opciones quir&#250;rgicas para fracturas de huesos largos en este tipo de pacientes pero ninguno se presenta en pacientes de raza cauc&#225;sica europea&#46; El caso que presentamos es el de un var&#243;n espa&#241;ol de raza cauc&#225;sica europea con fractura bilateral de f&#233;mur tratada mediante enclavado endomedular&#46;</p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Delgado Gonz&#225;lez A&#44; Morales Viaji JJ&#44; L&#243;pez D&#237;ez ME&#46; Fractura bilateral subtrocant&#233;rica de f&#233;mur debido a una enfermedad rara&#58; la picnodisostosis&#46; Rev Esp Cir Ortop Traumatol&#46; 2021&#59;65&#58;468&#8211;470&#46;</p>"
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                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Case&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Race&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Age&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Management&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Complication&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Hindu&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">54&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Nailing&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " colspan="5" align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">2&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8211;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">36&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Nailing and plate with nails &#40;bilateral fracture&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Surgical site infection&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " colspan="5" align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">3&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Latina&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">9&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Plate and nails &#40;bilateral&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " colspan="5" align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">4&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Hindu&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">35&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Plate and nails&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Delayed consolidation&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " colspan="5" align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">5&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Jewish&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">49&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Plate and nails &#40;bilateral&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " colspan="5" align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">7&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Asiatic&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">51&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Sliding nail plate &#40;bilateral&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Avascular necrosis&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " colspan="5" align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">9&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Asiatic&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">41&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Nailing &#40;bilateral&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
                  """
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ISSN: 19888856
Original language: English
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