Hereditary bone dysplasia with pathological fractures  and nodal osteoarthropathy.
A 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.
Arendse
Regan
R
Department of Medicine, Tygerberg Hospital, University of Stellenbosch, Stellenbosch, South Africa.
Brink
Paul
P
Beighton
Peter
P
D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging*; D005260:Female; D005598:Fractures, Spontaneous / Q000000981:diagnostic imaging* / Q000209:etiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009104:Multiple Trauma / Q000000981:diagnostic imaging* / Q000209:etiology; D010004:Osteoarthropathy, Primary Hypertrophic / Q000150:complications / Q000000981:diagnostic imaging*; D011859:Radiography