{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T13:12:05Z","timestamp":1788786725507,"version":"build-2803163510"},"reference-count":10,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,8,24]]},"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>\n                    Trichorhinophalangeal syndrome (TRPS) is a very rare genetic disorder comprised of three recognised types, all characterised by short, deformed fingers with cone-shaped epiphyses (CSE) visible on radiographs. TRPS type I is the most common subtype. We report the case of a girl in her mid-teens who presented with the characteristic clinical and radiological features of TRPS type I. The diagnosis was confirmed by whole-exome sequencing, which identified a novel heterozygous variant in the\n                    <jats:italic>TRPS1<\/jats:italic>\n                    gene. This case highlights a structured diagnostic approach to CSE and may further expand the mutational spectrum of TRPS type I.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-270257","type":"journal-article","created":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T12:55:11Z","timestamp":1788785711000},"page":"e270257","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Dysmorphic child with cone-shaped epiphyses: a diagnostic approach and novel trichorhinophalangeal syndrome gene variant"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-4188-2024","authenticated-orcid":false,"given":"Rimjhim","family":"Maheshwari","sequence":"first","affiliation":[{"name":"Department of Paediatrics, All India Institute of Medical Sciences Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8929-5017","authenticated-orcid":false,"given":"Prashant Kumar","family":"Verma","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, All India Institute of Medical Sciences Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivek","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5924-9395","authenticated-orcid":false,"given":"Shikhar","family":"Garg","sequence":"additional","affiliation":[{"name":"Department of Neonatology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,9,7]]},"reference":[{"key":"2026090705550674000_19.9.e270257.1","first-page":"475","article-title":"Tricho-rhino-phalangeal syndrome","volume":"21","author":"Giedion","year":"1966","journal-title":"Helv Paediatr Acta"},{"key":"2026090705550674000_19.9.e270257.2","doi-asserted-by":"publisher","DOI":"10.1038\/71717"},{"key":"2026090705550674000_19.9.e270257.3","first-page":"249","article-title":"Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases","volume":"28","author":"Giedion","year":"1973","journal-title":"Helv Paediatr Acta"},{"key":"2026090705550674000_19.9.e270257.4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"},{"key":"2026090705550674000_19.9.e270257.5","unstructured":"T\u00fcys\u00fcz B , G\u00fcne\u015f N , Alkaya DU , et al . Trichorhinophalangeal syndrome. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews\u00ae. Seattle (WA): University of Washington, 1993."},{"key":"2026090705550674000_19.9.e270257.6","first-page":"53","article-title":"Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5 years-old boy","volume":"28","author":"Fryns","year":"1980","journal-title":"J Genet Hum"},{"key":"2026090705550674000_19.9.e270257.7","doi-asserted-by":"crossref","first-page":"157","DOI":"10.14785\/lpsn-2015-0009","article-title":"Cartilage\u2013hair hypoplasia: a spectrum of clinical and radiological findings","volume":"2","author":"Faitelson","year":"2015","journal-title":"LymphoSign Journal"},{"key":"2026090705550674000_19.9.e270257.8","first-page":"1089","article-title":"Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification","volume":"27","author":"Pereda","year":"2014","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2026090705550674000_19.9.e270257.9","doi-asserted-by":"crossref","first-page":"104343","DOI":"10.1016\/j.ejmg.2021.104343","article-title":"Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease","volume":"64","author":"Ozyavuz Cubuk","year":"2021","journal-title":"Eur J Med Genet"},{"key":"2026090705550674000_19.9.e270257.10","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/jhg.2015.174","article-title":"SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation","volume":"61","author":"Ko","year":"2016","journal-title":"J Hum Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-270257","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T12:55:13Z","timestamp":1788785713000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-270257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":10,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2026,9,7]]},"published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1136\/bcr-2025-270257"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-270257","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9]]}}}