{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T22:05:51Z","timestamp":1790892351635,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tethered cord syndrome (TCS) is characterized by leg pain and weakness, bladder and bowel dysfunction, orthopedic malformations such as scoliosis, and motor deficits caused by the fixation of the spinal cord to surrounding tissues. TCS is surgically treatable and often found in conjunction with other syndromic conditions. KBG syndrome is caused by variants in the <jats:italic>ANKRD11<\/jats:italic> gene and is characterized by short stature, developmental delay, macrodontia, and a triangular face. The current study explores the prevalence of TCS in pediatric KBG patients and their associated signs and symptoms. Patients with KBG were surveyed for signs and symptoms associated with TCS and asked if they had been diagnosed with the syndrome. We found a high proportion of patients diagnosed with (11%) or being investigated for TCS (24%), emphasizing the need to further characterize the comorbid syndromes. No signs or symptoms clearly emerged as indicative of TCS in KBG patients, but some the prevalence of some signs and symptoms varied by sex. Male KBG patients with diagnosed TCS were more likely to have coordination issues and global delay\/brain fog than their female counterparts. Understanding the presentation of TCS in KBG patients is critical for timely diagnosis and treatment.<\/jats:p>","DOI":"10.1002\/ajmg.a.63128","type":"journal-article","created":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T12:36:26Z","timestamp":1675254986000},"page":"1222-1226","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Tethered cord syndrome in <scp>KBG<\/scp> syndrome"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5302-3236","authenticated-orcid":false,"given":"Sonia","family":"Hills","sequence":"first","affiliation":[{"name":"Division of Newborn Medicine Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisa","family":"Pugacheva","sequence":"additional","affiliation":[{"name":"Warren Alpert Medical School of Brown University  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Weltin","sequence":"additional","affiliation":[{"name":"Beyond the Diagnosis  Rumford Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Maughan","sequence":"additional","affiliation":[{"name":"KBG Foundation  Manchester Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah U.","family":"Morton","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry A.","family":"Feldman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"},{"name":"Institutional Centers for Clinical and Translational Research Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra M.","family":"Klinge","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Rhode Island Hospital Warren Alpert Medical School of Brown University  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj B.","family":"Agrawal","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"},{"name":"The Manton Center for Orphan Disease Research Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,2]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"489","article-title":"The vertebral level of termination of the spinal cord during normal and abnormal development","volume":"106","author":"Barson A. 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