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Mucolipidosis II: unusual presentation with a congenital angulated fracture
Author(s) -
Michels Virginia V.,
Dutton Robert V.,
Caskey C. Thomas
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb00754.x
Subject(s) - mucolipidosis , medicine , presentation (obstetrics) , osteogenesis imperfecta , fracture (geology) , pediatrics , anatomy , radiology , biochemistry , chemistry , geotechnical engineering , engineering , enzyme
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.