{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T06:01:36Z","timestamp":1785132096267,"version":"3.55.0"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T00:00:00Z","timestamp":1785110400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>KBG syndrome (KBGS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous pathogenic variants in ANKRD11. It is characterized by developmental delay, intellectual disability, behavioral difficulties, macrodontia, craniofacial dysmorphism, short stature, and skeletal anomalies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To describe the clinical, radiological, and molecular findings of Saudi patients with molecularly confirmed KBGS and compare their presentation with reported features in the literature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We conducted a retrospective case series at King Faisal Specialist Hospital and Research Centre, Riyadh, between January 2002 and December 2024. Clinical, dysmorphological, developmental, behavioral, family history, neuroimaging, and molecular data were reviewed for three pediatric patients with confirmed\n                      <jats:italic>ANKRD11<\/jats:italic>\n                      -related KBGS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All patients demonstrated core features of KBGS, including intellectual disability, speech and motor delay, learning difficulties, and behavioral manifestations such as autism spectrum features or aggression. Common dysmorphic findings included long philtrum and prominent ears in all patients, with a triangular face, macrodontia, and synophrys observed in two patients. Short stature and skeletal anomalies were also present. Molecular testing identified heterozygous pathogenic or likely pathogenic\n                      <jats:italic>ANKRD11<\/jats:italic>\n                      variants: NM_013275.6:c.4087C\u2009&amp;gt;\u2009T (p.Arg1363Ter), NM_013275.6:c.3382_3383del (p.Asp1128GlufsTer41), and NM_013275.6:c.1977C\u2009&amp;gt;\u2009G (p.Tyr659Ter). All variants were predicted to result in premature termination. Renal fusion and complex vertebral anomalies were observed, suggesting possible underrecognized systemic involvement, although cautious interpretation is required given the small sample size.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This Saudi case series adds to the growing evidence of clinical heterogeneity in KBGS. Early recognition, molecular confirmation, multidisciplinary care, and longitudinal follow-up are essential to improve diagnosis, surveillance, and management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1850895","type":"journal-article","created":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T05:40:06Z","timestamp":1785130806000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues"],"prefix":"10.3389","volume":"14","author":[{"given":"Mai","family":"Labani","sequence":"first","affiliation":[{"name":"Medical Genomics Department, King Faisal Specialist Hospital and Research Centre, Riyadh","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuhair","family":"Rahbeeni","sequence":"additional","affiliation":[{"name":"Medical Genomics Department, King Faisal Specialist Hospital and Research Centre, Riyadh","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,27]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/j.ajhg.2011.06.007","article-title":"Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia","volume":"89","author":"Sirmaci","year":"2011","journal-title":"Am J Hum Genet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"33799","DOI":"10.1074\/jbc.M403997200","article-title":"Identification of a novel family of ankyrin repeat-containing cofactors for p160 nuclear receptor coactivators","volume":"279","author":"Zhang","year":"2004","journal-title":"J Biol Chem"},{"key":"B3","first-page":"7","article-title":"The KBG syndrome: a syndrome of short stature, characteristic facies, mental retardation, macrodontia, and skeletal anomalies","volume":"11","author":"Herrmann","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"B4","doi-asserted-by":"publisher","first-page":"2847","DOI":"10.1002\/ajmg.a.37878","article-title":"Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11","volume":"170","author":"Goldenberg","year":"2016","journal-title":"Am J Med Genet A"},{"key":"B5","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1111\/cge.13977","article-title":"ANKRD11 Variants: kBG syndrome and beyond","volume":"100","author":"Parenti","year":"2021","journal-title":"Clin Genet"},{"key":"B6","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1002\/ajmg.b.32113","article-title":"Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations","volume":"162","author":"Lo-Castro","year":"2013","journal-title":"Am J Med Genet B Neuropsychiatr 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patients","volume":"108","author":"Kumar","year":"2009","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"B11","doi-asserted-by":"publisher","first-page":"2835","DOI":"10.1002\/ajmg.a.37842","article-title":"Clinical and genetic aspects of KBG syndrome","author":"Low","year":"2016","journal-title":"Am J Med Genet A"},{"key":"B12","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1186\/s13023-017-0736-8","article-title":"KBG Syndrome","volume":"12","author":"M Swols","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"B13","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1159\/000380908","article-title":"Short stature in KBG syndrome: first responses to growth hormone treatment","volume":"83","author":"Reynaert","year":"2015","journal-title":"Horm Res Paediatr"},{"key":"B14","doi-asserted-by":"publisher","first-page":"70553","DOI":"10.1002\/brb3.70553","article-title":"Life beyond childhood: insight into the lived experience of 91 adults with KBG syndrome through an online patient\/caregiver-reported co-produced questionnaire","volume":"15","author":"Low","year":"2025","journal-title":"Brain Behav"},{"key":"B15","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1136\/jmg-2022-108632","article-title":"Clinical description, molecular delineation and genotype\u2013phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients","volume":"60","author":"Martinez-Cayuelas","year":"2023","journal-title":"J Med Genet"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1270","DOI":"10.1038\/ejhg.2014.253","article-title":"Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations","volume":"23","author":"Ockeloen","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"B17","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1097\/MCD.0000000000000421","article-title":"Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 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