title: Cranio-osteoarthropathy in sibs.
abstract: Primary hypertrophic osteoarthropathy is a condition characterized by clubbing, arthropathy and periostosis of long tubular bones. Three variants of primary hypertrophic osteoarthropathy are distinguished: pachydermoperiostosis, which shows as additional symptom pachydermia; cranio-osteoarthropathy, which has a decreased neurocranium ossification as additional feature; and a secondary form. Primary hypertrophic osteoarthropathy is also genetically heterogeneous, with evidence for both autosomal dominant and autosomal recessive inheritance. We describe two sibs with cranio-osteoarthropathy and briefly review previously reported cases. The present cases demonstrate the phenotypic variability of the condition. The consanguinity in the present family and analysis of previously described cases support autosomal recessive inheritance for cranio-osteoarthropathy.
authors.affiliation: Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London Department of Paediatrics, Huddersfield Royal Infirmary, Lindley, Huddersfield, UK Yorkshire Regional Genetics Service, St James's University Hospital, Leeds Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Tabib
authors.initials: T
authors.lastname: Dabir
authors.forename: A M
authors.initials: AM
authors.lastname: Sills
authors.forename: Christine M
authors.initials: CM
authors.lastname: Hall
authors.forename: Chris
authors.initials: C
authors.lastname: Bennett
authors.forename: Louise C
authors.initials: LC
authors.lastname: Wilson
authors.forename: Raoul C M
authors.initials: RCM
authors.lastname: Hennekam
mesh_terms: D002675:Child, Preschool; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D010004:Osteoarthropathy, Primary Hypertrophic / Q000473:pathology*; D011859:Radiography; D035781:Siblings; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging