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Erschienen in:
01.06.2012 | Brief Report
Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy
Erschienen in: Irish Journal of Medical Science (1971 -) | Ausgabe 2/2012
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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.