Abstract
Aim
To highlight the clinical features and diagnosis of cranio-osteoarthropathy, an extremely rare disease.
Methods
Case report and literature review.
Result
A 2.3-year-old child presented with mild swelling of his distal phalanges at the age of 5 months that became pronounced gradually. His parents were consanguineous and his 14-year-old sister had albinism. Physical examination showed normal height and weight. A mild prominent nose, patent cranial sutures and anterior and posterior fontanel, clubbing of the digits without cyanosis, finger joint laxity, large nails, and mild knock-knee were noted. Radiographs showed wormian bones, patent cranial sutures, anterior and posterior fontanels, periostosis and wide diaphyses of long bone, abnormal curvature tibia.
Conclusion
Cranio-osteoarthropathy is an extremely rare occurrence and may be an autosomal-recessive inheritance. This diagnosis should be considered while a patient presented digital clubbing, periosteal new bone formation and decreased neurocranium ossification.
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Acknowledgments
We thank the patient’s parents for allowing us to use these data. This work is supported, in part, by grant of Zhejiang Health Bureau Fund for Young Scientists (2006QN017). Dr Chao Chun Zou contributed to the writing of the manuscript. Mrs Xian Chen and Dr Guan Ping Dong were responsible for the patient screening. Prof. Zheng Yan Zhao and Li Liang supervised the design and execution of the study.
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Chen, X., Zou, C.C., Dong, G.P. et al. Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy. Ir J Med Sci 181, 257–261 (2012). https://doi.org/10.1007/s11845-009-0346-0
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DOI: https://doi.org/10.1007/s11845-009-0346-0