{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:27:17Z","timestamp":1791329237793,"version":"4.3.1"},"reference-count":10,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,7,22]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>A woman in late adolescence presented with numbness and tingling in both upper limbs and exertional dyspnoea. Clinical examination and imaging confirmed Klippel-Feil Syndrome (KFS) with multiple cervical vertebral fusions, Sprengel\u2019s deformity, right lung hypoplasia and dextrocardia. Initial management with bronchodilators and cardiopulmonary rehabilitation led to symptomatic improvement. However, on follow-up, the patient developed progressive respiratory symptoms, and subsequent investigations revealed pulmonary tuberculosis. Despite the initiation of anti-tubercular therapy, her condition deteriorated, and she unfortunately succumbed to complications. This case illustrates a rare and severe multisystemic presentation of KFS and highlights the importance of thorough evaluation, long-term surveillance and vigilance for opportunistic infections in patients with congenital thoracic anomalies.<\/jats:p>","DOI":"10.1136\/bcr-2025-267256","type":"journal-article","created":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T14:20:33Z","timestamp":1756218033000},"page":"e267256","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Multisystemic presentation of Klippel-Feil syndrome with dextrocardia and right lung hypoplasia"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-0369-6348","authenticated-orcid":false,"given":"Amit","family":"Toshniwal","sequence":"first","affiliation":[{"name":"Respiratory Medicine, Datta Meghe Institute of Higher Education and Research Deemed to be University, Wardha, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Babaji","family":"Ghewade","sequence":"additional","affiliation":[{"name":"Respiratory Medicine, Datta Meghe Institute of Higher Education and Research Deemed to be University, Wardha, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alushika","family":"Jain","sequence":"additional","affiliation":[{"name":"Radio Diagnosis, Datta Meghe Institute of Higher Education and Research Deemed to be University, Wardha, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0456-9412","authenticated-orcid":false,"given":"Poonam Avinash","family":"Patil","sequence":"additional","affiliation":[{"name":"Respiratory Medicine, Datta Meghe Institute of Higher Education and Research Deemed to be University, Wardha, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,8,26]]},"reference":[{"key":"2025082607201534000_18.8.e267256.1","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1097\/MCD.0000000000000301","article-title":"Klippel-Feil syndrome: a review of the literature","volume":"29","author":"Frikha","year":"2020","journal-title":"Clin Dysmorphol"},{"key":"2025082607201534000_18.8.e267256.2","doi-asserted-by":"crossref","first-page":"194","DOI":"10.32641\/rchped.v90i2.779","article-title":"S\u00edndrome de Klippel-Feil autos\u00f3mico dominante: una malformaci\u00f3n de segmentaci\u00f3n vertebral","volume":"90","author":"Guapi","year":"2019","journal-title":"Rev Chil Pediatr"},{"key":"2025082607201534000_18.8.e267256.3","doi-asserted-by":"crossref","first-page":"E512","DOI":"10.1097\/BRS.0b013e318133fcf8","article-title":"Sprengel\u2019s deformity in Klippel-Feil syndrome","volume":"32","author":"Samartzis","year":"2007","journal-title":"Spine (Phila Pa 1976)"},{"key":"2025082607201534000_18.8.e267256.4","doi-asserted-by":"crossref","first-page":"693","DOI":"10.7863\/jum.2001.20.6.693","article-title":"Prenatal ultrasonographic diagnosis of Sprengel\u2019s deformity","volume":"20","author":"Chinn","year":"2001","journal-title":"J Ultrasound Med"},{"key":"2025082607201534000_18.8.e267256.5","unstructured":"Klippel-feil syndrome. 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