Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy

Ir J Med Sci. 2012 Jun;181(2):257-61. doi: 10.1007/s11845-009-0346-0. Epub 2009 May 9.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child, Preschool
  • Craniofacial Abnormalities / diagnostic imaging*
  • Craniofacial Abnormalities / genetics
  • Foot Deformities, Congenital / genetics
  • Foot Deformities, Congenital / pathology
  • Hand Deformities, Congenital / genetics
  • Hand Deformities, Congenital / pathology
  • Humans
  • Male
  • Osteoarthropathy, Primary Hypertrophic / diagnostic imaging*
  • Osteoarthropathy, Primary Hypertrophic / genetics
  • Radiography