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Annotated abstract

Multisystemic presentation of Klippel-Feil syndrome with dextrocardia and right lung hypoplasia

bmjcr · 2025-08-26 · canonical JSON source

7 visible annotations · policy: published · automated confidence ≥ 75.00%

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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’s 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.