title: Familial expansile osteolysis. A new dysplasia.
abstract: We report 40 cases in one family of an autosomal dominant bone dysplasia, which, though similar in some aspects to Paget's disease, seems unique in some features and in its natural history. The disease shows both general and focal skeletal changes, the latter being mainly in the limbs with an onset from the second decade. Progressive osteoclastic resorption is accompanied by medullary expansion which leads to pain, severe deformity and a tendency to pathological fracture. The serum alkaline phosphatase and urinary hydroxyproline are variably elevated, while other biochemical indices are normal. Most patients had an associated deafness of early onset and loss of dentition. No previous description of this disease has been found in the literature.
authors.affiliation: Royal Victoria Hospital, Belfast, Northern Ireland.
authors.forename: P H
authors.initials: PH
authors.lastname: Osterberg
authors.forename: R G
authors.initials: RG
authors.lastname: Wallace
authors.forename: D A
authors.initials: DA
authors.lastname: Adams
authors.forename: R S
authors.initials: RS
authors.lastname: Crone
authors.forename: G R
authors.initials: GR
authors.lastname: Dickson
authors.forename: J A
authors.initials: JA
authors.lastname: Kanis
authors.forename: R A
authors.initials: RA
authors.lastname: Mollan
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
authors.forename: J
authors.initials: J
authors.lastname: Sloan
authors.forename: P G
authors.initials: PG
authors.lastname: Toner
mesh_terms: D003638:Deafness / Q000209:etiology; D003937:Diagnosis, Differential; D006801:Humans; D010014:Osteolysis / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011859:Radiography