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Clinical and radiologic findings in an adult male with dysosteosclerosis
Author(s) -
Lemire Edmond G.,
Wiebe Sheldon
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32182
Subject(s) - osteosclerosis , adult male , radiography , medicine , dysplasia , pathology , radiology
Dysosteosclerosis is a rare autosomal recessive skeletal dysplasia characterized by osteosclerosis and platyspondyly. A case of dysosteosclerosis in a 17‐year‐old male from our institution was first published by Houston et al. 1978. This patient has survived into adulthood and to our knowledge, is the only reported adult with dysosteosclerosis. We will review the clinical and radiographic features in our patient. © 2008 Wiley‐Liss, Inc.