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A rare genetic disease - spondyloepiphyseal dysplasia

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Author:
No author available
Journal Title:
CHINESE MEDICAL JOURNAL
Issue:
19
DOI:
10.3760/cma.j.issn.0366-6999.2010.19.020
Key Word:
osteochondrodysplasias;diagnosis;therapy

Abstract: @@ Spondyloepiphyseal dysplasia (SED) comprises a group of hereditary disorders caused by osteochondrodysplasia of the spine and long tubular bones owing to chromosome abnormalities,1 SED can be divided into two major types, termed SED congenita and SED tarda, according to the time of onset, and both types have some particular characteristics. SED is a rare genetic disorder with an incidence of 1-4 per million population,2 and is prone to be confused with other conditions of short stature. We collected and analyzed the clinical data for 6 patients with SED who were admitted to Peking Union Medical College Hospital for treatment between May 1995 and January 2006 in order to provide a relatively comprehensive recognition of this disease for doctors and to facilitate the definite diagnosis among patients with dwarfism.

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