Mucolipidosis II: unusual presentation with a congenital angulated fracture |
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| Authors: | Virginia V. Michels Robert V. Dutton C. Thomas Caskey |
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| Affiliation: | Departments of Pediatrics, Radiology and Medicine, Baylor College of Medicine, Houston, Texas, U.S.A |
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| Abstract: | A newborn infant who was subsequently shown to have mucolipidosis II was noted to have a congenital angulated fracture. The appearance of the fracture led to an original clinical impression of osteogenesis imperfecta. Although pathologic fractures are frequently evident by roentgenographic examination, to our knowledge this is the first report of a congenital angulated fracture in a patient with mucolipidosis II. |
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| Keywords: | Congenital fracture Leroy I-cell disease mucolipidosis II |
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