{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T16:01:39Z","timestamp":1772035299994,"version":"3.50.1"},"reference-count":28,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,1,15]]},"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:p>\n                    B\u00f6rjeson\u2013Forssman\u2013Lehmann syndrome (BFLS) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants in the plant homeodomain finger protein 6 (\n                    <jats:italic>PHF6<\/jats:italic>\n                    ) gene. Core features include developmental delay, intellectual disability, dysmorphic craniofacial characteristics, obesity, hypogonadism and digital anomalies. Orofacial clefting has not been recognised as part of the canonical phenotype and is rarely reported in association with BFLS. One cohort study listed cleft lip and\/or palate as an uncommon feature without individual case details, and a separate report described a female with a nonsense\n                    <jats:italic>PHF6<\/jats:italic>\n                    variant and clefting of the hard and soft palate. Here, we describe a BFLS female with a de novo missense\n                    <jats:italic>PHF6<\/jats:italic>\n                    variant who presented with cleft palate. This case adds to the emerging evidence that clefting, though uncommon, may be a recurrent manifestation. It supports the inclusion of\n                    <jats:italic>PHF6<\/jats:italic>\n                    in the genetic testing of patients presenting with syndromic orofacial clefting when accompanied by neurodevelopmental delay or dysmorphism.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-270011","type":"journal-article","created":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T14:55:29Z","timestamp":1772031329000},"page":"e270011","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Orofacial clefting in\n                    <i>PHF6<\/i>\n                    -related B\u00f6rjeson\u2013Forssman\u2013Lehmann syndrome"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-8537-2515","authenticated-orcid":false,"given":"Dibyendu","family":"Dutta","sequence":"first","affiliation":[{"name":"Department of Medicine (Division of Hematology and Oncology), SUNY Upstate Medical University, Syracuse, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ria","family":"Garg","sequence":"additional","affiliation":[{"name":"Center of Development, Behavior, and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,2,25]]},"reference":[{"key":"2026022506551248000_19.2.e270011.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1962.tb04162.x"},{"key":"2026022506551248000_19.2.e270011.2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1040"},{"key":"2026022506551248000_19.2.e270011.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2009.01156.x"},{"key":"2026022506551248000_19.2.e270011.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101918"},{"key":"2026022506551248000_19.2.e270011.5","doi-asserted-by":"publisher","DOI":"10.1177\/0883073808327830"},{"key":"2026022506551248000_19.2.e270011.6","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.ejmg.2013.12.003","article-title":"Distinct phenotype of PHF6 deletions in females","volume":"57","author":"Di Donato","year":"2014","journal-title":"Eur J Med Genet"},{"key":"2026022506551248000_19.2.e270011.7","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1002\/ajmg.a.32624","article-title":"Further clinical delineation of the B\u00f6rjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations","volume":"149A","author":"Carter","year":"2009","journal-title":"Am J Med Genet A"},{"key":"2026022506551248000_19.2.e270011.8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201639"},{"key":"2026022506551248000_19.2.e270011.9","doi-asserted-by":"publisher","DOI":"10.1111\/CGE.14173"},{"key":"2026022506551248000_19.2.e270011.10","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1038\/s41431-023-01447-0","article-title":"B\u00f6rjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families","volume":"31","author":"Jain","year":"2023","journal-title":"Eur J Hum Genet"},{"key":"2026022506551248000_19.2.e270011.11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23183"},{"key":"2026022506551248000_19.2.e270011.12","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2026022506551248000_19.2.e270011.13","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"2026022506551248000_19.2.e270011.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"2026022506551248000_19.2.e270011.15","unstructured":"Functional Dependency Network Analysis (FDNA) . Face2Gene. Available: https:\/\/www.face2gene.com\/ [Accessed 15 Dec 2025]."},{"key":"2026022506551248000_19.2.e270011.16","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-018-0279-0"},{"key":"2026022506551248000_19.2.e270011.17","doi-asserted-by":"crossref","first-page":"325","DOI":"10.3390\/genes6020325","article-title":"PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein","volume":"6","author":"Todd","year":"2015","journal-title":"Genes (Basel)"},{"key":"2026022506551248000_19.2.e270011.18","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.04.021"},{"key":"2026022506551248000_19.2.e270011.19","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.535351"},{"key":"2026022506551248000_19.2.e270011.20","first-page":"317","article-title":"An inherited syndrome with mental deficiency and endocrine disorder. 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