Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature.
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.
Ramírez
Norman
N
Deparment of Orthopaedics, Mayagüez Medical Center, Puerto Rico.
Vilella
Fernando E
FE
Colón
Mirylsa
M
Flynn
John M
JM
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