title: Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature.
abstract: Osteogenesis imperfecta is one of the most common groups of inherited disorders of connective tissue. Hyperplastic callus formation in patients with osteogenesis imperfecta after fracture or surgery is a rare occurrence that has often been misdiagnosed as osteosarcoma. Previous series reported that hyperplastic callus formation is more often present in osteogenesis imperfecta male patients, with white sclerae, and a negative family history of the disorder. This is the first time that this complication has been presented in three female siblings, with a positive family history of osteogenesis imperfecta type IV. An association between osteogenesis imperfecta type IV and hyperplastic callus formation is unclear. This association might, however, be a separate, specific subtype of osteogenesis imperfecta, with an unknown inheritance pattern.
authors.affiliation: Deparment of Orthopaedics, Mayagüez Medical Center, Puerto Rico.
authors.forename: Norman
authors.initials: N
authors.lastname: Ramírez
authors.forename: Fernando E
authors.initials: FE
authors.lastname: Vilella
authors.forename: Mirylsa
authors.initials: M
authors.lastname: Colón
authors.forename: John M
authors.initials: JM
authors.lastname: Flynn
mesh_terms: D000293:Adolescent; D002146:Bony Callus / Q000000981:diagnostic imaging* / Q000503:physiopathology; D002648:Child; D003952:Diagnostic Imaging / Q000379:methods; D005260:Female; D005264:Femoral Fractures / Q000000981:diagnostic imaging / Q000601:surgery; D005594:Fracture Fixation, Intramedullary / Q000009:adverse effects / Q000379:methods*; D017102:Fracture Healing / Q000502:physiology; D005598:Fractures, Spontaneous / Q000150:complications / Q000175:diagnosis / Q000601:surgery*; D006801:Humans; D040582:Inheritance Patterns; D008279:Magnetic Resonance Imaging; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D011379:Prognosis; D011877:Radionuclide Imaging / Q000379:methods; D018570:Risk Assessment; D014057:Tomography, X-Ray Computed / Q000379:methods; D016896:Treatment Outcome