{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T21:22:13Z","timestamp":1774560133754,"version":"3.50.1"},"reference-count":46,"publisher":"BMJ","issue":"12","license":[{"start":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T00:00:00Z","timestamp":1692144000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Ricerca corrente, Italian Ministry of Health"},{"name":"Care4Rare, Canada Consortium"},{"name":"Intramural Research Program of the National Human Genome Research Institute"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2023,6,30]]},"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>KBG syndrome is caused by haploinsufficiency of <jats:italic>ANKRD11<\/jats:italic> and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>CNS and\/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network. We evaluated the original imaging and compared our results with data in the literature.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We identified 53 individuals, 44 with CNS and 40 with skeletal imaging. Common CNS findings included incomplete hippocampal inversion and posterior fossa malformations; these were significantly more common than previously reported (63.4% and 65.9% vs 1.1% and 24.7%, respectively). Additional features included patulous internal auditory canal, never described before in KBG syndrome, and the recurrence of ventriculomegaly, encephalic cysts, empty sella and low-lying conus medullaris. We found no correlation between these structural anomalies and epilepsy or intellectual disability. Prevalent skeletal findings comprised abnormalities of the spine including scoliosis, coccygeal anomalies and cervical ribs. Hand X-rays revealed frequent abnormalities of carpal bone morphology and maturation, including a greater delay in ossification compared with metacarpal\/phalanx bones.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This cohort enabled us to describe the prevalence of very heterogeneous neuroradiological and skeletal anomalies in KBG syndrome. Knowledge of the spectrum of such anomalies will aid diagnostic accuracy, improve patient care and provide a reference for future research on the effects of <jats:italic>ANKRD11<\/jats:italic> variants in skeletal and brain development.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2023-109141","type":"journal-article","created":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T13:28:54Z","timestamp":1692192534000},"page":"1224-1234","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0976-1258","authenticated-orcid":false,"given":"Francesca","family":"Peluso","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"}]},{"given":"Stefano G","family":"Caraffi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"}]},{"given":"Gianluca","family":"Contr\u00f2","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"}]},{"given":"Lara","family":"Valeri","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"},{"name":"Department of Pediatrics, University of Modena and Reggio Emilia Faculty of Medicine and Surgery, Modena, Emilia-Romagna, Italy"}]},{"given":"Manuela","family":"Napoli","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"}]},{"given":"Giorgia","family":"Carboni","sequence":"additional","affiliation":[{"name":"Radiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"}]},{"given":"Alka","family":"Seth","sequence":"additional","affiliation":[{"name":"Radiology, Rigshospitalet, Kobenhavn, Denmark"}]},{"given":"Roberta","family":"Zuntini","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"}]},{"given":"Emanuele","family":"Coccia","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"}]},{"given":"Guja","family":"Astrea","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy"}]},{"given":"Anne-Marie","family":"Bisgaard","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0113-783X","authenticated-orcid":false,"given":"Ivan","family":"Ivanovski","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich, Zurich, Switzerland"}]},{"given":"Silvia","family":"Maitz","sequence":"additional","affiliation":[{"name":"Service of Medical Genetics, IOSI, EOC, Lugano, Switzerland"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4816-1431","authenticated-orcid":false,"given":"Elise","family":"Brischoux-Boucher","sequence":"additional","affiliation":[{"name":"Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7211-3731","authenticated-orcid":false,"given":"Melissa T","family":"Carter","sequence":"additional","affiliation":[{"name":"The University of Newcastle, Callaghan, New South Wales, Australia"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9505-5906","authenticated-orcid":false,"given":"Maria Lisa","family":"Dentici","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[{"name":"Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark"}]},{"given":"Melissa","family":"Bellini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy"}]},{"given":"Asif","family":"Doja","sequence":"additional","affiliation":[{"name":"The University of Newcastle, Callaghan, New South Wales, Australia"}]},{"given":"David A","family":"Dyment","sequence":"additional","affiliation":[{"name":"The University of Newcastle, Callaghan, New South Wales, Australia"}]},{"given":"Stense","family":"Farholt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands"}]},{"given":"Carlos R","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Centro Hospitalar e Universit\u00e1rio de Coimbra EPE, Coimbra, Coimbra, Portugal"}]},{"given":"Lynne A","family":"Wolfe","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Centro Hospitalar e Universit\u00e1rio de Coimbra EPE, Coimbra, Coimbra, Portugal"}]},{"given":"William A","family":"Gahl","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, Bethesda, Maryland, USA"}]},{"given":"Maria","family":"Gnazzo","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy"}]},{"given":"Himanshu","family":"Goel","sequence":"additional","affiliation":[{"name":"Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia"},{"name":"The University of Newcastle, Callaghan, New South Wales, Australia"}]},{"given":"Sabine Weller","family":"Gr\u00f8nborg","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark"},{"name":"Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark"}]},{"given":"Trine","family":"Hammer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark"},{"name":"Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark"}]},{"given":"Lorenzo","family":"Iughetti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy"},{"name":"Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands"}]},{"given":"David A","family":"Koolen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands"}]},{"given":"Francesca Romana","family":"Lepri","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy"}]},{"given":"Gabrielle","family":"Lemire","sequence":"additional","affiliation":[{"name":"Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada"}]},{"given":"Pedro","family":"Louro","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Centro Hospitalar e Universit\u00e1rio de Coimbra EPE, Coimbra, Coimbra, Portugal"}]},{"given":"Gary","family":"McCullagh","sequence":"additional","affiliation":[{"name":"Royal Manchester Children's Hospital and University of Manchester, Royal Manchester Children's Hospital, Manchester, Manchester, UK"}]},{"given":"Simona F","family":"Madeo","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy"}]},{"given":"Annarita","family":"Milone","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy"}]},{"given":"Roberta","family":"Milone","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy"}]},{"given":"Jens Erik Klint","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Sjaelland, Denmark"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy"}]},{"given":"Charlotte W.","family":"Ockeloen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands"}]},{"given":"Rosario","family":"Pascarella","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"}]},{"given":"Tommaso","family":"Pippucci","sequence":"additional","affiliation":[{"name":"U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola, Bologna, Emilia-Romagna, Italy"}]},{"given":"Ivana","family":"Ricca","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5181-7809","authenticated-orcid":false,"given":"Stephen P","family":"Robertson","sequence":"additional","affiliation":[{"name":"Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand"}]},{"given":"Sarah","family":"Sawyer","sequence":"additional","affiliation":[{"name":"Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada"}]},{"given":"Marie","family":"Falkenberg Smeland","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Hospital of North Norway, Tromso, Troms, Norway"}]},{"given":"Sander","family":"Stegmann","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands"}]},{"given":"Constanze T","family":"Stumpel","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands"}]},{"given":"Amy","family":"Goel","sequence":"additional","affiliation":[{"name":"University of Newcastle, Callaghan, The University of Newcastle, Callaghan, New South Wales, Australia"}]},{"given":"Juliet M","family":"Taylor","sequence":"additional","affiliation":[{"name":"Genetic Health Service - Northern Hub, Genetic Health Service - Northern Hub, Aukland, New Zealand"}]},{"given":"Domenico","family":"Barbuti","sequence":"additional","affiliation":[{"name":"Radiology and Bioimaging Unit, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy"}]},{"given":"Annarosa","family":"Soresina","sequence":"additional","affiliation":[{"name":"Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Ex-perimental Sciences, ASST Spedali Civili di Brescia, Brescia, Lombardia, Italy"}]},{"given":"Maria Francesca","family":"Bedeschi","sequence":"additional","affiliation":[{"name":"Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy"}]},{"given":"Roberta","family":"Battini","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy"},{"name":"Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Toscana, Italy"}]},{"given":"Anna","family":"Cavalli","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"}]},{"given":"Carlo","family":"Fusco","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"}]},{"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Lombardia, Italy"}]},{"given":"Lionel","family":"Van Maldergem","sequence":"additional","affiliation":[{"name":"Centre de g\u00e9n\u00e9tique humaine, Universit\u00e9 de Franche-Comt\u00e9, Centre Hospitalier Universitaire de Besancon, Besancon, France"}]},{"given":"Sunita","family":"Venkateswaran","sequence":"additional","affiliation":[{"name":"The University of Newcastle, Callaghan, New South Wales, Australia"}]},{"given":"Orsetta","family":"Zuffardi","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, Pavia, Lombardia, Italy"}]},{"given":"Samantha","family":"Vergano","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA"}]},{"given":"Livia","family":"Garavelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy"}]},{"given":"Allan","family":"Bayat","sequence":"additional","affiliation":[{"name":"Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark"},{"name":"Institute for Regional Health Services Research, University of Southern Denmark, Odense, Syddanmark, Denmark"}]}],"member":"239","published-online":{"date-parts":[[2023,8,16]]},"reference":[{"key":"2025101712090793000_60.12.1224.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.007"},{"key":"2025101712090793000_60.12.1224.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31597"},{"key":"2025101712090793000_60.12.1224.3","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1002\/ajmg.a.61524","article-title":"KBG syndrome: common and 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