{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T13:15:40Z","timestamp":1746710140975,"version":"3.40.5"},"reference-count":35,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,8,1]]},"abstract":"<jats:p>Williams syndrome is a genetic condition caused by a deletion on chromosome 7. Clinically it consists of multiple cardiovascular and craniofacial structural abnormalities as well as developmental delay, specific cognitive difficulties, and a characteristic personality. Although scoliosis is a noted manifestation of the disorder, syrinx in association with Williams syndrome has not been reported previously in the literature. Here we present the case of a child with Williams syndrome, scoliosis, and a thoracolumbar syrinx that was successfully treated surgically. We recommend that children with Williams syndrome and scoliosis undergo preoperative evaluation of the spinal cord, as well as the spinal column, so that correctable lesions such as a syrinx are not overlooked. Although syrinxes are often associated with scoliosis, the association in this case of syrinx and Williams syndrome could imply the existence of a genetic contribution to syrinx formation on chromosome 7.<\/jats:p>","DOI":"10.1542\/peds.2005-2737","type":"journal-article","created":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:25:18Z","timestamp":1152577518000},"page":"e522-e525","source":"Crossref","is-referenced-by-count":5,"title":["Thoracolumbar Syrinx in Association With Williams Syndrome"],"prefix":"10.1542","volume":"118","author":[{"given":"David B.","family":"Cohen","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Allegheny General Hospital, Pittsburgh, Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew R.","family":"Quigley","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Allegheny General Hospital, Pittsburgh, Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2006,8,1]]},"reference":[{"doi-asserted-by":"crossref","unstructured":"Williams JCP, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation.\u20081961;24:1311\u20131318","key":"2021120822403531000_R1","DOI":"10.1161\/01.CIR.24.6.1311"},{"doi-asserted-by":"crossref","unstructured":"Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation.\u20081962;26:1235\u20131240","key":"2021120822403531000_R2","DOI":"10.1161\/01.CIR.26.6.1235"},{"doi-asserted-by":"crossref","unstructured":"Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance. Am J Cardiol.\u20081964;13:471\u2013482","key":"2021120822403531000_R3","DOI":"10.1016\/0002-9149(64)90154-7"},{"doi-asserted-by":"crossref","unstructured":"Donnai D, Karmiloff-Smith A. Williams syndrome: from genotype through to the cognitive phenotype. Am J Med Genet.\u20082000;97:164\u2013171","key":"2021120822403531000_R4","DOI":"10.1002\/1096-8628(200022)97:2<164::AID-AJMG8>3.0.CO;2-F"},{"doi-asserted-by":"crossref","unstructured":"Stromme P, Bjornstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol.\u20082002;17:269\u2013271","key":"2021120822403531000_R5","DOI":"10.1177\/088307380201700406"},{"doi-asserted-by":"crossref","unstructured":"American Academy of Pediatrics, Committee on Genetics. Health care supervision for children with Williams syndrome. Pediatrics.\u20082001;107:1192\u20131204","key":"2021120822403531000_R6","DOI":"10.1542\/peds.107.2.442"},{"doi-asserted-by":"crossref","unstructured":"Galaburda AM, Schmitt JE, Atlas SW, Eliez S, Bellugi U, Reiss AL. Dorsal forebrain anomaly in Williams syndrome. Arch Neurol.\u20082001;58:1865\u20131869","key":"2021120822403531000_R7","DOI":"10.1001\/archneur.58.11.1865"},{"doi-asserted-by":"crossref","unstructured":"Lashkari A, Smith AK, Graham JM. Williams-Beuren syndrome: an update and review for the primary physician. Clin Pediatr (Phila).\u20081999;38:189\u2013208","key":"2021120822403531000_R8","DOI":"10.1177\/000992289903800401"},{"doi-asserted-by":"crossref","unstructured":"Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr.\u20081988;113:318\u2013326","key":"2021120822403531000_R9","DOI":"10.1016\/S0022-3476(88)80272-5"},{"doi-asserted-by":"crossref","unstructured":"Osborne L, Pober B. Genetics of childhood disorders: XXVII. Genes and cognition in Williams syndrome. J Am Acad Child Adolesc Psychiatry.\u20082001;40:732\u2013735","key":"2021120822403531000_R10","DOI":"10.1097\/00004583-200106000-00021"},{"doi-asserted-by":"crossref","unstructured":"Kaplan P, Wang PP, Francke U. Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder. J Child Neurol.\u20082001;16:177\u2013190","key":"2021120822403531000_R11","DOI":"10.1177\/088307380101600305"},{"doi-asserted-by":"crossref","unstructured":"Osebold WR, King HA. Kyphoscoliosis in Williams syndrome. Spine.\u20081994;19:367\u2013371","key":"2021120822403531000_R12","DOI":"10.1097\/00007632-199402000-00021"},{"doi-asserted-by":"crossref","unstructured":"Pober BR, Filiano JJ. Association of Chiari I malformation and Williams syndrome. Pediatr Neurol.\u20081995;12:84\u201388","key":"2021120822403531000_R13","DOI":"10.1016\/0887-8994(94)00117-K"},{"doi-asserted-by":"crossref","unstructured":"Metcalfe K. Williams syndrome: an update on clinical and molecular aspects. Arch Dis Child.\u20081999;81:198\u2013200","key":"2021120822403531000_R14","DOI":"10.1136\/adc.81.3.198"},{"doi-asserted-by":"crossref","unstructured":"Schultz RT, Grelotti DJ, Pober B. Genetics of childhood disorders: XXVI. Williams syndrome and brain-behavior relationships. J Am Acad Child Adolesc Psychiatry.\u20082001;40:606\u2013609","key":"2021120822403531000_R15","DOI":"10.1097\/00004583-200105000-00022"},{"unstructured":"Ashkenas J. Williams syndrome starts making sense. Am J Hum Genet.\u20081996;59:756\u2013761","key":"2021120822403531000_R16"},{"doi-asserted-by":"crossref","unstructured":"Bhattacharjee Y. Friendly faces and unusual minds. Science.\u20082005;310:802\u2013804","key":"2021120822403531000_R17","DOI":"10.1126\/science.310.5749.802"},{"doi-asserted-by":"crossref","unstructured":"Lenhoff HM, Wang PP, Greenberg F, Bellugi U. Williams syndrome and the brain. Sci Am.\u20081997;277:68\u201373","key":"2021120822403531000_R18","DOI":"10.1038\/scientificamerican1297-68"},{"doi-asserted-by":"crossref","unstructured":"Gray V, Karmiloff-Smith A, Funnell E, Tassabehji M. In-depth analysis of spatial cognition in Williams syndrome: a critical assessment of the role of the LIMK1 gene. Neuropsychologia.\u20082006;44:679\u2013685","key":"2021120822403531000_R19","DOI":"10.1016\/j.neuropsychologia.2005.08.007"},{"unstructured":"Kuntz C IV, Shaffrey CI, Wolcott WP. Approach to the patient and medical management of spinal disorders. In: Winn HR, ed. Youmans Neurological Surgery. 5th ed. Philadelphia, PA: Elsevier; 2004:4289\u20134326","key":"2021120822403531000_R20"},{"doi-asserted-by":"crossref","unstructured":"Hanieh A, Sutherland A, Foster B, Cundy P. Syringomyelia in children with primary scoliosis. Childs Nerv Syst.\u20082000;16:200\u2013202","key":"2021120822403531000_R21","DOI":"10.1007\/s003810050496"},{"unstructured":"Mollano AV, Weinstein SL, Menezes AH. Significant scoliosis regression following syringomyelia decompression: case report. Iowa Orthop J.\u20082005;25:57\u201359","key":"2021120822403531000_R22"},{"doi-asserted-by":"crossref","unstructured":"Kontio K, Davidson D, Letts M. Management of scoliosis and syringomyelia in children. J Pediatr Orthop.\u20082002;22:771\u2013779","key":"2021120822403531000_R23","DOI":"10.1097\/01241398-200211000-00016"},{"doi-asserted-by":"crossref","unstructured":"Charry O, Koop S, Winter R, et al. Syringomyelia and scoliosis: a review of twenty-five pediatric patients. J Pediatr Orthop.\u20081994;14:309\u2013317","key":"2021120822403531000_R24","DOI":"10.1097\/01241398-199405000-00007"},{"doi-asserted-by":"crossref","unstructured":"Tokunaga M, Minami S, Isobe K, Moriya H, Kitahara H, Nakata Y. Natural history of scoliosis in children with syringomyelia. J Bone Joint Surg Br.\u20082001;83:371\u2013376","key":"2021120822403531000_R25","DOI":"10.1302\/0301-620X.83B3.0830371"},{"doi-asserted-by":"crossref","unstructured":"Gower DJ, Pollay M, Leech R. Pediatric syringomyelia. J Child Neurol.\u20081994;9:14\u201321","key":"2021120822403531000_R26","DOI":"10.1177\/088307389400900103"},{"unstructured":"Batzdorf U. Syringomyelia, Chiari malformation, and hydromyelia. In: Youmans JR, ed. Neurological Surgery: A Comprehensive Reference Guide to the Diagnosis and Management of Neurosurgical Problems. Vol 2. 4th ed. Philadelphia, PA: WB Saunders; 1996:1090\u20131093","key":"2021120822403531000_R27"},{"unstructured":"Sze RW, Gruss JS, Cunningham ML. Unilateral aplasia of the middle cranial fossa floor in atypical hemifacial microsomia. AJNR Am J Neuroradiol.\u20082001;22:1434\u20131437","key":"2021120822403531000_R28"},{"doi-asserted-by":"crossref","unstructured":"Hammond CJ, Chitnavis B, Penny CC, Strong AJ. Dandy-Walker complex and syringomyelia in an adult: case report and discussion. Neurosurgery.\u20082002;50:191\u2013194","key":"2021120822403531000_R29","DOI":"10.1227\/00006123-200201000-00028"},{"doi-asserted-by":"crossref","unstructured":"Hite SH, Krivit W, Haines SJ, Whitley CB. Syringomyelia in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): imaging findings following bone marrow transplantation. Pediatr Radiol.\u20081997;27:736\u2013738","key":"2021120822403531000_R30","DOI":"10.1007\/s002470050213"},{"doi-asserted-by":"crossref","unstructured":"Groeper K, Johnson JO, Braddock SR, Tobias JD. Anaesthetic implications of Nager syndrome. Paediatr Anaesth.\u20082002;12:365\u2013368","key":"2021120822403531000_R31","DOI":"10.1046\/j.1460-9592.2002.00876.x"},{"doi-asserted-by":"crossref","unstructured":"Islek I, Kucukoduk S, Incesu L, Selcuk MB, Aygun D. Carpenter syndrome: report of two siblings. Clin Dysmorphol.\u20081998;7:185\u2013189","key":"2021120822403531000_R32","DOI":"10.1097\/00019605-199807000-00005"},{"doi-asserted-by":"crossref","unstructured":"Ng WH, Seow WT. Tethered cord syndrome preceding syrinx formation: serial radiological documentation. Childs Nerv Syst.\u20082001;17:494\u2013496","key":"2021120822403531000_R33","DOI":"10.1007\/s003810100450"},{"doi-asserted-by":"crossref","unstructured":"Kerrison JB, Biousse V, Newman NJ. Isolated Horner's syndrome and syringomyelia. J Neurol Neurosurg Psychiatry.\u20082000;69:131\u2013132","key":"2021120822403531000_R34","DOI":"10.1136\/jnnp.69.1.131"},{"doi-asserted-by":"crossref","unstructured":"Pomeranz H. Isolated Horner syndrome and syrinx of the cervical spinal cord. Am J Ophthalmol.\u20082002;133:702\u2013704","key":"2021120822403531000_R35","DOI":"10.1016\/S0002-9394(02)01340-5"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/118\/2\/e522\/1074341\/zpe0080600e522.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/118\/2\/e522\/1074341\/zpe0080600e522.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T02:27:41Z","timestamp":1639016861000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/118\/2\/e522\/68999\/Thoracolumbar-Syrinx-in-Association-With-Williams"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,1]]},"references-count":35,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2006,8,1]]},"published-print":{"date-parts":[[2006,8,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2005-2737","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"type":"print","value":"0031-4005"},{"type":"electronic","value":"1098-4275"}],"subject":[],"published":{"date-parts":[[2006,8,1]]}}}