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Its incidence rate is extremely low. According to the current limited global data statistics, only a few cases occur per million population. Most cases concentrate in childhood and adolescence. During this stage, the rapid physiological changes of the body seem to be closely related to the triggering of the disease. Its characteristics include unique facial features, intellectual and motor developmental delay, and short stature. This paper reports a case of WITKOS in a 4-month-old infant caused by large-fragment copy number variation in the 15q24.1 - q24.2 region of the chromosome that encompasses the SIN3 A gene. Gene mutations lead to abnormal functions of key proteins, which subsequently disrupt the normal development and operation of multiple body systems., By summarizing its gene phenotype characteristics, it provides diagnostic and treatment ideas for clinicians to screen for developmentally deviated young children. It is expected to provide more effective treatment options for WITKOS to improve the prognosis of patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>This infant was diagnosed with WITKOS at 4\u00a0months of age. Subsequently, the manifestations included a wide forehead, a low nasal bridge, low-set ears, growth and intellectual developmental delay, low muscle tone in the limbs, and feeding difficulties. After early rehabilitation training, the language and motor abilities of this infant have been effectively improved, and currently, the infant can walk and run independently and can say short sentences independently.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>For children with WITKOS, early diagnosis of the clinical symptoms they exhibit and rehabilitation intervention should be carried out, which can effectively improve the quality of life of the children. This report is the first case of WITKOS caused by a large - fragment deletion, further enriching the case data of WITKOS and highlighting the necessity of strengthening clinical management and monitoring.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13052-025-01971-3","type":"journal-article","created":{"date-parts":[[2025,5,7]],"date-time":"2025-05-07T13:08:20Z","timestamp":1746623300000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Report on Witteveen-Kolk syndrome caused by large fragment deletion in the 15q24.1 -\u00a0q24.2 region in infants with early onset and literature review"],"prefix":"10.1186","volume":"51","author":[{"given":"Hanlin","family":"Tang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiaxuan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Ge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qunting","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinlu","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qicheng","family":"Qiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruihan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingxia","family":"Kong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiubo","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7917-8655","authenticated-orcid":false,"given":"Xiufang","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,5,7]]},"reference":[{"issue":"8","key":"1971_CR1","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1038\/ng.3619","volume":"48","author":"JS Witteveen","year":"2016","unstructured":"Witteveen JS, Willemsen MH, Dombroski TCD, et al. 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Comprehensive study of 28 individuals with SIN3 A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype[J]. Eur J Hum Genet. 2021;29(4):625\u201336.","journal-title":"Eur J Hum Genet"},{"key":"1971_CR4","doi-asserted-by":"crossref","unstructured":"Adam Jacobson, MD, Brenda L. Bohnsack, MD, PHD. Anterior megalophthalmos in sisters with Witteveen-Kolk syndrome [J]. Journal of AAPOS,2022,26(3):148\u2013150.","DOI":"10.1016\/j.jaapos.2022.01.003"},{"key":"1971_CR5","doi-asserted-by":"crossref","unstructured":"van Dongen1,Ellen Wingberm\u00fchle,AlexanderJ.M.Dingemans,et al.Behavior and cognitive functioning in Witteveen-Kolk syndrome[J].Medical Genetics,2020;182A:2384\u20132390.","DOI":"10.1002\/ajmg.a.61775"},{"issue":"6\u20138","key":"1971_CR6","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1016\/j.bbagrm.2009.05.007","volume":"1789","author":"A Grzenda","year":"2009","unstructured":"Grzenda A, Lomberk G, Zhang JS, Urrutia R. 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The approval number is 2024-09-C007.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for publication of this case report and accompanying images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All the authors have read and understood the \u201cItalian Journal of Pediatrics\u201d policy on the declaration of interest and declare that we have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"134"}}