{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T05:44:05Z","timestamp":1770356645788,"version":"3.49.0"},"reference-count":56,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"11","license":[{"start":{"date-parts":[[2021,3,15]],"date-time":"2021-03-15T00:00:00Z","timestamp":1615766400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,15]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>Rubinstein-Taybi syndrome (RTS) is a rare disorder with a range of congenital anomalies. Although 40% to 60% of patients with RTS have scoliotic deformities, few reports discuss the outcomes of correctional surgery and postoperative care. To raise awareness of the clinical features of RTS and surgical considerations, the authors report on the surgical treatment of a pediatric patient with RTS accompanied by scoliosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBSERVATIONS<\/jats:title>\n                    <jats:p>A 14-year-old girl with RTS presented with low back pain associated with progressive scoliosis. Because of jaw hypoplasia, videolaryngoscopy-mediated intubation was chosen. A single-stage T4\u2013L3 posterior corrective fusion with instrumentation was successfully performed. Physical and imaging findings were analyzed up to 2 years after correction. The main thoracic Cobb angle was corrected from 73\u00b0 to 12\u00b0 and maintained for 2 years after surgery. The patient\u2019s low back pain resolved.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LESSONS<\/jats:title>\n                    <jats:p>Careful consideration of RTS-associated complications and preoperative planning, including the use of videolaryngoscopy-mediated intubation, anesthesia selection, and postoperative care, proved crucial. Scoliosis may appear in many variations in rare diseases such as RTS. Publication of case reports such as this one is needed to provide detailed information about strategies and considerations for correcting scoliotic deformities in patients with RTS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/case20110","type":"journal-article","created":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T12:09:04Z","timestamp":1695816544000},"source":"Crossref","is-referenced-by-count":0,"title":["Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case"],"prefix":"10.3171","volume":"1","author":[{"given":"Takeshi","family":"Imai","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Sakai","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordy","family":"Schol","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiro","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiko","family":"Hiyama","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Katoh","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masato","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiko","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1","series-title":"Am J Med Genet Suppl","first-page":"56","article-title":"Etiology and recurrence risk in Rubinstein-Taybi syndrome","volume":"6","author":"Hennekam\n \nRC","year":"1990","unstructured":"Hennekam\n \nRC\n\n, \n\nStevens\n \nCA\n\n, \n\nVan de Kamp\n \nJJ\n\n\n. \nEtiology and recurrence risk in Rubinstein-Taybi syndrome\n. \nAm J Med Genet Suppl\n. \n1990\n;\n6\n:\n56\n\u2013\n64\n."},{"issue":"4","key":"b2","series-title":"Am J Med Genet","first-page":"636","article-title":"Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3)","volume":"38","author":"Imaizumi\n \nK","year":"1991","unstructured":"Imaizumi\n \nK\n\n, \n\nKuroki\n \nY\n\n\n. \nRubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3)\n. \nAm J Med Genet\n. \n1991\n;\n38\n(\n4\n):\n636\n\u2013\n639\n."},{"issue":"1","key":"b3","series-title":"Am J Med Genet","first-page":"126","article-title":"Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3","volume":"44","author":"Lacombe\n \nD","year":"1992","unstructured":"Lacombe\n \nD\n\n, \n\nSaura\n \nR\n\n, \n\nTaine\n \nL\n\n, \n\nBattin\n \nJ\n\n\n. \nConfirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3\n. \nAm J Med Genet\n. \n1992\n;\n44\n(\n1\n):\n126\n\u2013\n128\n."},{"key":"b4","series-title":"BMC Med Genet","first-page":"77","article-title":"Rubinstein-Taybi syndrome: spectrum of CREBBP mutations in Italian patients","volume":"7","author":"Bentivegna\n \nA","year":"2006","unstructured":"Bentivegna\n \nA\n\n, \n\nMilani\n \nD\n\n, \n\nGervasini\n \nC\n\n, \n\n\n. \nRubinstein-Taybi syndrome: spectrum of CREBBP mutations in Italian patients\n. \nBMC Med Genet\n. \n2006\n;\n7\n:\n77\n."},{"issue":"1","key":"b5","series-title":"Neuromolecular Med","first-page":"16","article-title":"Epigenetic mechanisms of Rubinstein-Taybi syndrome","volume":"16","author":"Park\n \nE","year":"2014","unstructured":"Park\n \nE\n\n, \n\nKim\n \nY\n\n, \n\nRyu\n \nH\n\n, \n\n\n. \nEpigenetic mechanisms of Rubinstein-Taybi syndrome\n. \nNeuromolecular Med\n. \n2014\n;\n16\n(\n1\n):\n16\n\u2013\n24\n."},{"issue":"4","key":"b6","series-title":"Am J Hum Genet","first-page":"572","article-title":"Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease","volume":"76","author":"Roelfsema\n \nJH","year":"2005","unstructured":"Roelfsema\n \nJH\n\n, \n\nWhite\n \nSJ\n\n, \n\nAriy\u00fcrek\n \nY\n\n, \n\n\n. \nGenetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease\n. \nAm J Hum Genet\n. \n2005\n;\n76\n(\n4\n):\n572\n\u2013\n580\n."},{"issue":"3","key":"b7","series-title":"Clin Dysmorphol","first-page":"137","article-title":"Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect","volume":"28","author":"Hadzsiev\n \nK","year":"2019","unstructured":"Hadzsiev\n \nK\n\n, \n\nGyorsok\n \nZ\n\n, \n\nTill\n \nA\n\n, \n\n\n. \nRubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect\n. \nClin Dysmorphol\n. \n2019\n;\n28\n(\n3\n):\n137\n\u2013\n141\n."},{"issue":"2","key":"b8","series-title":"Am J Med Genet A","first-page":"101","article-title":"Rubinstein-Taybi syndrome medical guidelines","volume":"119A","author":"Wiley\n \nS","year":"2003","unstructured":"Wiley\n \nS\n\n, \n\nSwayne\n \nS\n\n, \n\nRubinstein\n \nJH\n\n, \n\n\n. \nRubinstein-Taybi syndrome medical guidelines\n. \nAm J Med Genet A\n. \n2003\n;\n119A\n(\n2\n):\n101\n\u2013\n110\n."},{"key":"b9","series-title":"Ital J Pediatr","first-page":"4","article-title":"Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management","volume":"41","author":"Milani\n \nD","year":"2015","unstructured":"Milani\n \nD\n\n, \n\nManzoni\n \nFM\n\n, \n\nPezzani\n \nL\n\n, \n\n\n. \nRubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management\n. \nItal J Pediatr\n. \n2015\n;\n41\n:\n4\n."},{"key":"b10","series-title":"Scoliosis","first-page":"21","article-title":"Rubinstein-Taybi syndrome with scoliosis","volume":"6","author":"Tatara\n \nY","year":"2011","unstructured":"Tatara\n \nY\n\n, \n\nKawakami\n \nN\n\n, \n\nTsuji\n \nT\n\n, \n\n\n. \nRubinstein-Taybi syndrome with scoliosis\n. \nScoliosis\n. \n2011\n;\n6\n:\n21\n."},{"key":"b11","series-title":"J Med Case Reports","first-page":"10","article-title":"Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report","volume":"9","author":"Bounakis\n \nN","year":"2015","unstructured":"Bounakis\n \nN\n\n, \n\nKarampalis\n \nC\n\n, \n\nSharp\n \nH\n\n, \n\nTsirikos\n \nAI\n\n\n. \nSurgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report\n. \nJ Med Case Reports\n. \n2015\n;\n9\n:\n10\n."},{"issue":"3","key":"b12","series-title":"J Bone Joint Surg Br","first-page":"297","article-title":"Cervical spondylolisthesis and other skeletal abnormalities in Rubinstein-Taybi syndrome","volume":"62","author":"Robson\n \nMJ","year":"1980","unstructured":"Robson\n \nMJ\n\n, \n\nBrown\n \nLM\n\n, \n\nSharrard\n \nWJ\n\n\n. \nCervical spondylolisthesis and other skeletal abnormalities in Rubinstein-Taybi syndrome\n. \nJ Bone Joint Surg Br\n. \n1980\n;\n62\n(\n3\n):\n297\n\u2013\n299\n."},{"issue":"2","key":"b13","series-title":"Am J Med Genet A","first-page":"130","article-title":"Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome","volume":"135","author":"Yamamoto\n \nT","year":"2005","unstructured":"Yamamoto\n \nT\n\n, \n\nKurosawa\n \nK\n\n, \n\nMasuno\n \nM\n\n, \n\n\n. \nCongenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome\n. \nAm J Med Genet A\n. \n2005\n;\n135\n(\n2\n):\n130\n\u2013\n133\n."},{"issue":"4 suppl","key":"b14","series-title":"J Neurosurg","first-page":"261","article-title":"Rubinstein-Taybi syndrome in children with tethered spinal cord","volume":"105","author":"Tanaka\n \nT","year":"2006","unstructured":"Tanaka\n \nT\n\n, \n\nLing\n \nBC\n\n, \n\nRubinstein\n \nJH\n\n, \n\nCrone\n \nKR\n\n\n. \nRubinstein-Taybi syndrome in children with tethered spinal cord\n. \nJ Neurosurg\n. \n2006\n;\n105\n(\n4 suppl\n):\n261\n\u2013\n264\n."},{"issue":"2","key":"b15","series-title":"Am J Med Genet A","first-page":"479","article-title":"Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?","volume":"152A","author":"W\u00f3jcik\n \nC","year":"2010","unstructured":"W\u00f3jcik\n \nC\n\n, \n\nVolz\n \nK\n\n, \n\nRanola\n \nM\n\n, \n\n\n. \nRubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?\n \nAm J Med Genet A\n. \n2010\n;\n152A\n(\n2\n):\n479\n\u2013\n483\n."},{"issue":"11","key":"b16","series-title":"Am J Med Genet A","first-page":"2766","article-title":"Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx","volume":"155A","author":"Parsley\n \nL","year":"2011","unstructured":"Parsley\n \nL\n\n, \n\nBellus\n \nG\n\n, \n\nHandler\n \nM\n\n, \n\nTsai\n \nAC\n\n\n. \nIdentical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx\n. \nAm J Med Genet A\n. \n2011\n;\n155A\n(\n11\n):\n2766\n\u2013\n2770\n."},{"issue":"6","key":"b17","series-title":"Korean J Pediatr","first-page":"718","article-title":"A case of Rubinstein-Taybi syndrome with a CREB-binding protein gene mutation","volume":"53","author":"Kim\n \nSH","year":"2010","unstructured":"Kim\n \nSH\n\n, \n\nLim\n \nBC\n\n, \n\nChae\n \nJH\n\n, \n\n\n. \nA case of Rubinstein-Taybi syndrome with a CREB-binding protein gene mutation\n. \nKorean J Pediatr\n. \n2010\n;\n53\n(\n6\n):\n718\n\u2013\n721\n."},{"issue":"7","key":"b18","series-title":"Am J Med Genet A","first-page":"1680","article-title":"Adults with Rubinstein-Taybi syndrome","volume":"155A","author":"Stevens\n \nCA","year":"2011","unstructured":"Stevens\n \nCA\n\n, \n\nPouncey\n \nJ\n\n, \n\nKnowles\n \nD\n\n\n. \nAdults with Rubinstein-Taybi syndrome\n. \nAm J Med Genet A\n. \n2011\n;\n155A\n(\n7\n):\n1680\n\u2013\n1684\n."},{"issue":"12","key":"b19","series-title":"Childs Nerv Syst","first-page":"2163","article-title":"The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome","volume":"28","author":"Giussani\n \nC","year":"2012","unstructured":"Giussani\n \nC\n\n, \n\nSelicorni\n \nA\n\n, \n\nFossati\n \nC\n\n, \n\n\n. \nThe association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome\n. \nChilds Nerv Syst\n. \n2012\n;\n28\n(\n12\n):\n2163\n\u2013\n2168\n."},{"issue":"11","key":"b20","series-title":"Clin Orthop","first-page":"111","article-title":"The iliac apophysis: an invaluable sign in the management of scoliosis","volume":"11","author":"Risser\n \nJC","year":"1958","unstructured":"Risser\n \nJC\n\n\n. \nThe iliac apophysis: an invaluable sign in the management of scoliosis\n. \nClin Orthop\n. \n1958\n;\n11\n(\n11\n):\n111\n\u2013\n119\n."},{"issue":"3","key":"b21","series-title":"J Bone Joint Surg Am","first-page":"540","article-title":"Predicting scoliosis progression from skeletal maturity: a simplified classification during adolescence","volume":"90","author":"Sanders\n \nJO","year":"2008","unstructured":"Sanders\n \nJO\n\n, \n\nKhoury\n \nJG\n\n, \n\nKishan\n \nS\n\n, \n\n\n. \nPredicting scoliosis progression from skeletal maturity: a simplified classification during adolescence\n. \nJ Bone Joint Surg Am\n. \n2008\n;\n90\n(\n3\n):\n540\n\u2013\n553\n."},{"issue":"4","key":"b22","series-title":"Clin Dysmorphol","first-page":"135","article-title":"Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum","volume":"25","author":"Hamilton\n \nMJ","year":"2016","unstructured":"Hamilton\n \nMJ\n\n, \n\nNewbury-Ecob\n \nR\n\n, \n\nHolder-Espinasse\n \nM\n\n, \n\n\n. \nRubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum\n. \nClin Dysmorphol\n. \n2016\n;\n25\n(\n4\n):\n135\n\u2013\n145\n."},{"issue":"3","key":"b23","series-title":"Br J Dermatol","first-page":"615","article-title":"Keloids in Rubinstein-Taybi syndrome: a clinical study","volume":"171","author":"van de Kar\n \nAL","year":"2014","unstructured":"van de Kar\n \nAL\n\n, \n\nHouge\n \nG\n\n, \n\nShaw\n \nAC\n\n, \n\n\n. \nKeloids in Rubinstein-Taybi syndrome: a clinical study\n. \nBr J Dermatol\n. \n2014\n;\n171\n(\n3\n):\n615\n\u2013\n621\n."},{"key":"b24","series-title":"Am J Dis Child","first-page":"588","article-title":"Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome","volume":"105","author":"Rubinstein\n \nJH","year":"1963","unstructured":"Rubinstein\n \nJH\n\n, \n\nTaybi\n \nH\n\n\n. \nBroad thumbs and toes and facial abnormalities. A possible mental retardation syndrome\n. \nAm J Dis Child\n. \n1963\n;\n105\n:\n588\n\u2013\n608\n."},{"issue":"8","key":"b25","series-title":"Masui","first-page":"1233","article-title":"Emergency operation and perioperative management for a patient with strangulated ileus and shock associated with Rubinstein-Taybi syndrome","volume":"43","author":"Oku\n \nS","year":"1994","unstructured":"Oku\n \nS\n\n, \n\nGoto\n \nH\n\n, \n\nArakawa\n \nK\n\n, \n\n\n. \nEmergency operation and perioperative management for a patient with strangulated ileus and shock associated with Rubinstein-Taybi syndrome\n. Article in Japanese. Masui\n. \n1994\n;\n43\n(\n8\n):\n1233\n\u2013\n1237\n."},{"issue":"3","key":"b26","series-title":"Am J Med Genet","first-page":"346","article-title":"Cardiac abnormalities in the Rubinstein-Taybi syndrome","volume":"59","author":"Stevens\n \nCA","year":"1995","unstructured":"Stevens\n \nCA\n\n, \n\nBhakta\n \nMG\n\n\n. \nCardiac abnormalities in the Rubinstein-Taybi syndrome\n. \nAm J Med Genet\n. \n1995\n;\n59\n(\n3\n):\n346\n\u2013\n348\n."},{"issue":"5","key":"b27","series-title":"Anesthesiology","first-page":"429","article-title":"Succinylcholine in Rubinstein-Taybi syndrome","volume":"57","author":"Stirt\n \nJA","year":"1982","unstructured":"Stirt\n \nJA\n\n\n. \nSuccinylcholine in Rubinstein-Taybi syndrome\n. \nAnesthesiology\n. \n1982\n;\n57\n(\n5\n):\n429\n."},{"issue":"3","key":"b28","series-title":"Turk J Anaesthesiol Reanim","first-page":"152","article-title":"Anaesthetic management of children with Rubinstein-Taybi syndrome","volume":"44","author":"Karahan\n \nMA","year":"2016","unstructured":"Karahan\n \nMA\n\n, \n\nSert\n \nH\n\n, \n\nAyhan\n \nZ\n\n, \n\nAyhan\n \nB\n\n\n. \nAnaesthetic management of children with Rubinstein-Taybi syndrome\n. \nTurk J Anaesthesiol Reanim\n. \n2016\n;\n44\n(\n3\n):\n152\n\u2013\n154\n."},{"key":"b1","series-title":"Am J Med Genet Suppl","first-page":"56","article-title":"Etiology and recurrence risk in Rubinstein-Taybi syndrome","volume":"6","author":"Hennekam\n \nRC","year":"1990","unstructured":"Hennekam\n \nRC\n\n, \n\nStevens\n \nCA\n\n, \n\nVan de Kamp\n \nJJ\n\n\n. \nEtiology and recurrence risk in Rubinstein-Taybi syndrome\n. \nAm J Med Genet Suppl\n. \n1990\n;\n6\n:\n56\n\u2013\n64\n."},{"issue":"4","key":"b2","series-title":"Am J Med Genet","first-page":"636","article-title":"Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3)","volume":"38","author":"Imaizumi\n \nK","year":"1991","unstructured":"Imaizumi\n \nK\n\n, \n\nKuroki\n \nY\n\n\n. \nRubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3)\n. \nAm J Med Genet\n. \n1991\n;\n38\n(\n4\n):\n636\n\u2013\n639\n."},{"issue":"1","key":"b3","series-title":"Am J Med Genet","first-page":"126","article-title":"Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3","volume":"44","author":"Lacombe\n \nD","year":"1992","unstructured":"Lacombe\n \nD\n\n, \n\nSaura\n \nR\n\n, \n\nTaine\n \nL\n\n, \n\nBattin\n \nJ\n\n\n. \nConfirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3\n. \nAm J Med Genet\n. \n1992\n;\n44\n(\n1\n):\n126\n\u2013\n128\n."},{"key":"b4","series-title":"BMC Med Genet","first-page":"77","article-title":"Rubinstein-Taybi syndrome: spectrum of CREBBP mutations in Italian patients","volume":"7","author":"Bentivegna\n \nA","year":"2006","unstructured":"Bentivegna\n \nA\n\n, \n\nMilani\n \nD\n\n, \n\nGervasini\n \nC\n\n, \n\n\n. \nRubinstein-Taybi syndrome: spectrum of CREBBP mutations in Italian patients\n. \nBMC Med Genet\n. \n2006\n;\n7\n:\n77\n."},{"issue":"1","key":"b5","series-title":"Neuromolecular Med","first-page":"16","article-title":"Epigenetic mechanisms of Rubinstein-Taybi syndrome","volume":"16","author":"Park\n \nE","year":"2014","unstructured":"Park\n \nE\n\n, \n\nKim\n \nY\n\n, \n\nRyu\n \nH\n\n, \n\n\n. \nEpigenetic mechanisms of Rubinstein-Taybi syndrome\n. \nNeuromolecular Med\n. \n2014\n;\n16\n(\n1\n):\n16\n\u2013\n24\n."},{"issue":"4","key":"b6","series-title":"Am J Hum Genet","first-page":"572","article-title":"Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease","volume":"76","author":"Roelfsema\n \nJH","year":"2005","unstructured":"Roelfsema\n \nJH\n\n, \n\nWhite\n \nSJ\n\n, \n\nAriy\u00fcrek\n \nY\n\n, \n\n\n. \nGenetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease\n. \nAm J Hum Genet\n. \n2005\n;\n76\n(\n4\n):\n572\n\u2013\n580\n."},{"issue":"3","key":"b7","series-title":"Clin Dysmorphol","first-page":"137","article-title":"Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect","volume":"28","author":"Hadzsiev\n \nK","year":"2019","unstructured":"Hadzsiev\n \nK\n\n, \n\nGyorsok\n \nZ\n\n, \n\nTill\n \nA\n\n, \n\n\n. \nRubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect\n. \nClin Dysmorphol\n. \n2019\n;\n28\n(\n3\n):\n137\n\u2013\n141\n."},{"issue":"2","key":"b8","series-title":"Am J Med Genet A","first-page":"101","article-title":"Rubinstein-Taybi syndrome medical guidelines","volume":"119A","author":"Wiley\n \nS","year":"2003","unstructured":"Wiley\n \nS\n\n, \n\nSwayne\n \nS\n\n, \n\nRubinstein\n \nJH\n\n, \n\n\n. \nRubinstein-Taybi syndrome medical guidelines\n. \nAm J Med Genet A\n. \n2003\n;\n119A\n(\n2\n):\n101\n\u2013\n110\n."},{"key":"b9","series-title":"Ital J Pediatr","first-page":"4","article-title":"Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management","volume":"41","author":"Milani\n \nD","year":"2015","unstructured":"Milani\n \nD\n\n, \n\nManzoni\n \nFM\n\n, \n\nPezzani\n \nL\n\n, \n\n\n. \nRubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management\n. \nItal J Pediatr\n. \n2015\n;\n41\n:\n4\n."},{"key":"b10","series-title":"Scoliosis","first-page":"21","article-title":"Rubinstein-Taybi syndrome with scoliosis","volume":"6","author":"Tatara\n \nY","year":"2011","unstructured":"Tatara\n \nY\n\n, \n\nKawakami\n \nN\n\n, \n\nTsuji\n \nT\n\n, \n\n\n. \nRubinstein-Taybi syndrome with scoliosis\n. \nScoliosis\n. \n2011\n;\n6\n:\n21\n."},{"key":"b11","series-title":"J Med Case Reports","first-page":"10","article-title":"Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report","volume":"9","author":"Bounakis\n \nN","year":"2015","unstructured":"Bounakis\n \nN\n\n, \n\nKarampalis\n \nC\n\n, \n\nSharp\n \nH\n\n, \n\nTsirikos\n \nAI\n\n\n. \nSurgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report\n. \nJ Med Case Reports\n. \n2015\n;\n9\n:\n10\n."},{"issue":"3","key":"b12","series-title":"J Bone Joint Surg Br","first-page":"297","article-title":"Cervical spondylolisthesis and other skeletal abnormalities in Rubinstein-Taybi syndrome","volume":"62","author":"Robson\n \nMJ","year":"1980","unstructured":"Robson\n \nMJ\n\n, \n\nBrown\n \nLM\n\n, \n\nSharrard\n \nWJ\n\n\n. \nCervical spondylolisthesis and other skeletal abnormalities in Rubinstein-Taybi syndrome\n. \nJ Bone Joint Surg Br\n. \n1980\n;\n62\n(\n3\n):\n297\n\u2013\n299\n."},{"issue":"2","key":"b13","series-title":"Am J Med Genet A","first-page":"130","article-title":"Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome","volume":"135","author":"Yamamoto\n \nT","year":"2005","unstructured":"Yamamoto\n \nT\n\n, \n\nKurosawa\n \nK\n\n, \n\nMasuno\n \nM\n\n, \n\n\n. \nCongenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome\n. \nAm J Med Genet A\n. \n2005\n;\n135\n(\n2\n):\n130\n\u2013\n133\n."},{"issue":"4 suppl","key":"b14","series-title":"J Neurosurg","first-page":"261","article-title":"Rubinstein-Taybi syndrome in children with tethered spinal cord","volume":"105","author":"Tanaka\n \nT","year":"2006","unstructured":"Tanaka\n \nT\n\n, \n\nLing\n \nBC\n\n, \n\nRubinstein\n \nJH\n\n, \n\nCrone\n \nKR\n\n\n. \nRubinstein-Taybi syndrome in children with tethered spinal cord\n. \nJ Neurosurg\n. \n2006\n;\n105\n(\n4 suppl\n):\n261\n\u2013\n264\n."},{"issue":"2","key":"b15","series-title":"Am J Med Genet A","first-page":"479","article-title":"Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?","volume":"152A","author":"W\u00f3jcik\n \nC","year":"2010","unstructured":"W\u00f3jcik\n \nC\n\n, \n\nVolz\n \nK\n\n, \n\nRanola\n \nM\n\n, \n\n\n. \nRubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?\n \nAm J Med Genet A\n. \n2010\n;\n152A\n(\n2\n):\n479\n\u2013\n483\n."},{"issue":"11","key":"b16","series-title":"Am J Med Genet A","first-page":"2766","article-title":"Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx","volume":"155A","author":"Parsley\n \nL","year":"2011","unstructured":"Parsley\n \nL\n\n, \n\nBellus\n \nG\n\n, \n\nHandler\n \nM\n\n, \n\nTsai\n \nAC\n\n\n. \nIdentical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx\n. \nAm J Med Genet A\n. \n2011\n;\n155A\n(\n11\n):\n2766\n\u2013\n2770\n."},{"issue":"6","key":"b17","series-title":"Korean J Pediatr","first-page":"718","article-title":"A case of Rubinstein-Taybi syndrome with a CREB-binding protein gene mutation","volume":"53","author":"Kim\n \nSH","year":"2010","unstructured":"Kim\n \nSH\n\n, \n\nLim\n \nBC\n\n, \n\nChae\n \nJH\n\n, \n\n\n. \nA case of Rubinstein-Taybi syndrome with a CREB-binding protein gene mutation\n. \nKorean J Pediatr\n. \n2010\n;\n53\n(\n6\n):\n718\n\u2013\n721\n."},{"issue":"7","key":"b18","series-title":"Am J Med Genet A","first-page":"1680","article-title":"Adults with Rubinstein-Taybi syndrome","volume":"155A","author":"Stevens\n \nCA","year":"2011","unstructured":"Stevens\n \nCA\n\n, \n\nPouncey\n \nJ\n\n, \n\nKnowles\n \nD\n\n\n. \nAdults with Rubinstein-Taybi syndrome\n. \nAm J Med Genet A\n. \n2011\n;\n155A\n(\n7\n):\n1680\n\u2013\n1684\n."},{"issue":"12","key":"b19","series-title":"Childs Nerv Syst","first-page":"2163","article-title":"The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome","volume":"28","author":"Giussani\n \nC","year":"2012","unstructured":"Giussani\n \nC\n\n, \n\nSelicorni\n \nA\n\n, \n\nFossati\n \nC\n\n, \n\n\n. \nThe association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome\n. \nChilds Nerv Syst\n. \n2012\n;\n28\n(\n12\n):\n2163\n\u2013\n2168\n."},{"issue":"11","key":"b20","series-title":"Clin Orthop","first-page":"111","article-title":"The iliac apophysis: an invaluable sign in the management of scoliosis","volume":"11","author":"Risser\n \nJC","year":"1958","unstructured":"Risser\n \nJC\n\n\n. \nThe iliac apophysis: an invaluable sign in the management of scoliosis\n. \nClin Orthop\n. \n1958\n;\n11\n(\n11\n):\n111\n\u2013\n119\n."},{"issue":"3","key":"b21","series-title":"J Bone Joint Surg Am","first-page":"540","article-title":"Predicting scoliosis progression from skeletal maturity: a simplified classification during adolescence","volume":"90","author":"Sanders\n \nJO","year":"2008","unstructured":"Sanders\n \nJO\n\n, \n\nKhoury\n \nJG\n\n, \n\nKishan\n \nS\n\n, \n\n\n. \nPredicting scoliosis progression from skeletal maturity: a simplified classification during adolescence\n. \nJ Bone Joint Surg Am\n. \n2008\n;\n90\n(\n3\n):\n540\n\u2013\n553\n."},{"issue":"4","key":"b22","series-title":"Clin Dysmorphol","first-page":"135","article-title":"Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum","volume":"25","author":"Hamilton\n \nMJ","year":"2016","unstructured":"Hamilton\n \nMJ\n\n, \n\nNewbury-Ecob\n \nR\n\n, \n\nHolder-Espinasse\n \nM\n\n, \n\n\n. \nRubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum\n. \nClin Dysmorphol\n. \n2016\n;\n25\n(\n4\n):\n135\n\u2013\n145\n."},{"issue":"3","key":"b23","series-title":"Br J Dermatol","first-page":"615","article-title":"Keloids in Rubinstein-Taybi syndrome: a clinical study","volume":"171","author":"van de Kar\n \nAL","year":"2014","unstructured":"van de Kar\n \nAL\n\n, \n\nHouge\n \nG\n\n, \n\nShaw\n \nAC\n\n, \n\n\n. \nKeloids in Rubinstein-Taybi syndrome: a clinical study\n. \nBr J Dermatol\n. \n2014\n;\n171\n(\n3\n):\n615\n\u2013\n621\n."},{"key":"b24","series-title":"Am J Dis Child","first-page":"588","article-title":"Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome","volume":"105","author":"Rubinstein\n \nJH","year":"1963","unstructured":"Rubinstein\n \nJH\n\n, \n\nTaybi\n \nH\n\n\n. \nBroad thumbs and toes and facial abnormalities. A possible mental retardation syndrome\n. \nAm J Dis Child\n. \n1963\n;\n105\n:\n588\n\u2013\n608\n."},{"issue":"8","key":"b25","series-title":"Masui","first-page":"1233","article-title":"Emergency operation and perioperative management for a patient with strangulated ileus and shock associated with Rubinstein-Taybi syndrome","volume":"43","author":"Oku\n \nS","year":"1994","unstructured":"Oku\n \nS\n\n, \n\nGoto\n \nH\n\n, \n\nArakawa\n \nK\n\n, \n\n\n. \nEmergency operation and perioperative management for a patient with strangulated ileus and shock associated with Rubinstein-Taybi syndrome\n. Article in Japanese. Masui\n. \n1994\n;\n43\n(\n8\n):\n1233\n\u2013\n1237\n."},{"issue":"3","key":"b26","series-title":"Am J Med Genet","first-page":"346","article-title":"Cardiac abnormalities in the Rubinstein-Taybi syndrome","volume":"59","author":"Stevens\n \nCA","year":"1995","unstructured":"Stevens\n \nCA\n\n, \n\nBhakta\n \nMG\n\n\n. \nCardiac abnormalities in the Rubinstein-Taybi syndrome\n. \nAm J Med Genet\n. \n1995\n;\n59\n(\n3\n):\n346\n\u2013\n348\n."},{"issue":"5","key":"b27","series-title":"Anesthesiology","first-page":"429","article-title":"Succinylcholine in Rubinstein-Taybi syndrome","volume":"57","author":"Stirt\n \nJA","year":"1982","unstructured":"Stirt\n \nJA\n\n\n. \nSuccinylcholine in Rubinstein-Taybi syndrome\n. \nAnesthesiology\n. \n1982\n;\n57\n(\n5\n):\n429\n."},{"issue":"3","key":"b28","series-title":"Turk J Anaesthesiol Reanim","first-page":"152","article-title":"Anaesthetic management of children with Rubinstein-Taybi syndrome","volume":"44","author":"Karahan\n \nMA","year":"2016","unstructured":"Karahan\n \nMA\n\n, \n\nSert\n \nH\n\n, \n\nAyhan\n \nZ\n\n, \n\nAyhan\n \nB\n\n\n. \nAnaesthetic management of children with Rubinstein-Taybi syndrome\n. \nTurk J Anaesthesiol Reanim\n. \n2016\n;\n44\n(\n3\n):\n152\n\u2013\n154\n."}],"container-title":["Journal of Neurosurgery: Case Lessons"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/1\/11\/article-CASE20110.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/1\/11\/article-CASE20110.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/1\/11\/article-CASE20110.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T14:56:26Z","timestamp":1770303386000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/1\/11\/article-CASE20110.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,15]]},"references-count":56,"journal-issue":{"issue":"11"},"URL":"https:\/\/doi.org\/10.3171\/case20110","relation":{},"ISSN":["2694-1902"],"issn-type":[{"value":"2694-1902","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,15]]}}}