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Updated: Aug 22, 2026

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Congenital cardiac disease as a core feature of cranio-osteoarthropathy
Susan O'Connell1, Mohnish Suri, Desmond Duff
1Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland Clinical Genetic Service, City Hospital, Nottingham, UK Great Ormond Street Hospital for Children, London, UK.
Abstract:
Cranio-osteoarthropathy is a rare condition. Classically, signs are identifiable in infancy with clubbing of fingers, and delayed closure of the clinically enlarged cranial sutures, followed by periosteal new bone formation on X-rays of the long bones. Ultimately, joint swelling and stiffness follow, typically involving the large joints. We report two unrelated patients with features of cranio-osteoarthropathy, both of whom also had a history of congenital heart disease. Moreover, the cases reported here, manifesting significant differences in radiological features, emphasize the variability of radiological findings which can attend this condition.
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