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An Extremely Rare, Atypical and Genetically-Undetermined Form of Osteopetrosis

Author(s):

Cecilia Tetta*, Marco Focaccia, Lea Bono, Eugenio Rimondi and Paolo Spinnato   Pages 1 - 4 ( 4 )

Abstract:


Osteopetrosis is an uncommon skeletal disorder characterized by generalized sclerosis of bones due to defective osteoclast function. A wide variation in clinical severity of the disease has been observed. Radiographic features and genetic testing are usually used to diagnose the condition. In the present study, we present a case of an extremely rare, atypical and genetically-undetermined form of Osteopetrosis. This patient had some clinical and radiological features of craniometaphyseal dysplasia along with atypical radiological signs of osteopetrosis.

Keywords:

Sclerosis, Osteopetrosis, Craniometaphyseal dysplasia, Diagnostic imaging, X-rays, Metabolic bone disease

Affiliation:

Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Oncological Orthopedic Department, IRCCS Istituto Ortopedico Rizzoli, Bologna, Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, Bologna



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