{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T08:00:50Z","timestamp":1785225650271,"version":"3.55.0"},"reference-count":19,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,11,11]]},"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:p>We report a male child with developmental delay, microcephaly and facial dysmorphism in the form of a turri-brachycephaly-shaped skull, triangular face, posteriorly rotated lop ears, thick bushy eyebrows, synophrys, long deep philtrum and prominent incisors. The mobile application Face2Gene was used to screen the patient\u2019s facial photographs for known syndromes. The application suggested a high likelihood of KBG syndrome. Exome sequencing confirmed this by identifying a heterozygous pathogenic known mutation p.Tyr1406Ter in the <jats:italic>ANKRD11<\/jats:italic> gene. Thus, the diagnosis of KBG syndrome was suggested only by the Face2Gene application, and the confirmation required DNA testing such as exome sequencing analysis.<\/jats:p>","DOI":"10.1136\/bcr-2024-260238","type":"journal-article","created":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T20:35:25Z","timestamp":1733344525000},"page":"e260238","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Child with KBG syndrome"],"prefix":"10.1136","volume":"17","author":[{"given":"Badiginchala Naga","family":"Jyothi","sequence":"first","affiliation":[{"name":"Pediatric Neurology, Aster CMI Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumathi","family":"Angel","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Aster CMI Hospital, Bengaluru, Karnataka, India"},{"name":"Medgenome Labs Pvt Ltd, Bangalore, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chinthalapalli Prakash","family":"Ravi Kumar","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Aster CMI Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parag M","family":"Tamhankar","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Aster CMI Hospital, Bengaluru, Karnataka, India"},{"name":"Medgenome Labs Pvt Ltd, Bangalore, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,12,4]]},"reference":[{"key":"2025082802564453000_17.12.e260238.1","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2020.579805","article-title":"Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review","volume":"11","author":"Kim","year":"2020","journal-title":"Front Genet"},{"key":"2025082802564453000_17.12.e260238.2","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1159\/000496172","article-title":"Novel Mutations and Unreported Clinical Features in KBG Syndrome","volume":"10","author":"Scarano","year":"2019","journal-title":"Mol Syndromol"},{"key":"2025082802564453000_17.12.e260238.3","doi-asserted-by":"crossref","DOI":"10.3390\/jpm12030407","article-title":"Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature","volume":"12","author":"Gao","year":"2022","journal-title":"J Pers Med"},{"key":"2025082802564453000_17.12.e260238.4","doi-asserted-by":"crossref","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":"2025082802564453000_17.12.e260238.5","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 Defect"},{"key":"2025082802564453000_17.12.e260238.6","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M403997200"},{"key":"2025082802564453000_17.12.e260238.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2008.01.012"},{"key":"2025082802564453000_17.12.e260238.8","unstructured":"Schrier Vergano S , Santen G , Wieczorek D . 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