Hereditary bone dysplasia with pathological fractures and nodal osteoarthropathy

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dc.contributor.authorArendse R.
dc.contributor.authorBrink P.
dc.contributor.authorBeighton P.
dc.date.accessioned2011-05-15T16:17:55Z
dc.date.available2011-05-15T16:17:55Z
dc.date.issued2009
dc.description.abstractA father and daughter both had multiple pathological fractures and nodal osteoarthropathy. The father, aged 50 years, had at least 20 healed fractures of the axial and appendicular skeleton, sustained by minor trauma over his 50-year lifespan, many of which had been surgically fixed prior to his first presentation to us. Fractures of the clavicles, thoracic cage and long bones of the arms and legs, had healed with malalignment and deformity. Healed fractures were complicated by ankylosis of the cervical vertebrae and both elbows. He also had osteoarthritis of the hands, with exuberant osteophytosis, and profound perceptive deafness. His general health was good, his intellect and facies were normal, and his sclerae were white. The daughter, aged 27 years, had sustained at least seven fractures of the axial and appendicular skeleton following trivial injuries, in distribution similar to those of the father. She had also experienced painful swelling of the fingers, which preceded progressive development of nodal osteoarthropathy. Her hearing was normal. In both individuals, biochemical and immunological investigations yielded normal results. It was not possible for molecular studies to be undertaken. Pedigree data were consistent with autosomal dominant transmission, and this disorder appeared to be a previously undocumented heritable skeletal dysplasia. © 2009 ISS.
dc.description.versionArticle
dc.identifier.citationSkeletal Radiology
dc.identifier.citation38
dc.identifier.citation12
dc.identifier.issn03642348
dc.identifier.other10.1007/s00256-009-0794-7
dc.identifier.urihttp://hdl.handle.net/10019.1/14429
dc.subjectadult
dc.subjectaged
dc.subjectankylosis
dc.subjectarticle
dc.subjectautosomal dominant inheritance
dc.subjectbone biopsy
dc.subjectbone densitometry
dc.subjectbone dysplasia
dc.subjectbone malformation
dc.subjectcase report
dc.subjectcervical spine radiography
dc.subjectclinical feature
dc.subjectcomputer assisted tomography
dc.subjectdifferential diagnosis
dc.subjectdisease severity
dc.subjectfemale
dc.subjecthand radiography
dc.subjecthuman
dc.subjectmale
dc.subjectmandible
dc.subjectosteoarthritis
dc.subjectosteoarthropathy
dc.subjectosteomyelitis
dc.subjectosteophyte
dc.subjectpathologic fracture
dc.subjectpedigree
dc.subjectperception deafness
dc.subjectpriority journal
dc.subjectrib fracture
dc.subjectscoliosis
dc.subjectskull radiography
dc.subjectthorax radiography
dc.subjectAdult
dc.subjectBone Diseases, Developmental
dc.subjectFemale
dc.subjectFractures, Spontaneous
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMultiple Trauma
dc.subjectOsteoarthropathy, Primary Hypertrophic
dc.titleHereditary bone dysplasia with pathological fractures and nodal osteoarthropathy
dc.typeArticle
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