Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

2008 ◽  
Vol 22 (1) ◽  
pp. 19-32 ◽  
Author(s):  
Sheila Unger ◽  
Luisa Bonafé ◽  
Andrea Superti-Furga
Keyword(s):  
Differential Diagnosis ◽  
Molecular Basis ◽  
Multiple Epiphyseal Dysplasia ◽  
Radiographic Features ◽  
Epiphyseal Dysplasia

Pseudoachondroplasia and Dominant Epiphyseal Dysplasia

2018 ◽  
pp. 23-32
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Multiple Epiphyseal Dysplasia ◽  
Radiographic Features ◽  
Epiphyseal Dysplasia

This chapter discusses pseudoachondroplasia and dominant epiphyseal dysplasia and explores pseudoachondroplasia, and multiple epiphyseal dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

Sulfate Transporter Group

2012 ◽  
pp. 47-57
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Multiple Epiphyseal Dysplasia ◽  
Type Ii ◽  
Sulfate Transporter ◽  
Diastrophic Dysplasia ◽  
Radiographic Features ◽  
Recessive Type ◽  
Epiphyseal Dysplasia ◽  
Achondrogenesis Type

Chapter 12 covers sulfate transporter group (achondrogenesis type 1B (MIM 600972) atelosteogenesis type II (MIM 256050), diastrophic dysplasia (MIM222600) multiple epiphyseal dysplasia, recessive type (RMED; MIM 226900), including major clinical findings, radiographic features, and differential diagnoses.

scholarly journals Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

2021 ◽  
Author(s):  
Leonardo Gatticchi ◽  
Dominika Vešelényiová ◽  
Jan Miertus ◽  
Paolo Enrico Maltese ◽  
Elena Manara ◽  
...  
Keyword(s):  
Multiple Epiphyseal Dysplasia ◽  
Stargardt Disease ◽  
Epiphyseal Dysplasia

MULTIPLE EPIPHYSEAL DYSPLASIA: A FAMILY STUDY

Rheumatology ◽  
1979 ◽  
Vol 18 (4) ◽  
pp. 239-242 ◽  
Author(s):  
T. GIBSON ◽  
J. HIGHTON
Keyword(s):  
Family Study ◽  
Multiple Epiphyseal Dysplasia ◽  
Epiphyseal Dysplasia

scholarly journals A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia

2010 ◽  
Vol 155 (1) ◽  
pp. 154-163 ◽  
Author(s):  
Jirair K. Bedoyan ◽  
Marci M. Lesperance ◽  
Todd Ackley ◽  
Ramaswamy K. Iyer ◽  
Jeffrey W. Innis ◽  
...  
Keyword(s):  
Multiple Epiphyseal Dysplasia ◽  
Epiphyseal Dysplasia

scholarly journals A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia

2009 ◽  
Vol 19 (1) ◽  
pp. 52-64 ◽  
Author(s):  
Katarzyna A. Piróg ◽  
Oihane Jaka ◽  
Yoshihisa Katakura ◽  
Roger S. Meadows ◽  
Karl E. Kadler ◽  
...  
Keyword(s):  
Mouse Model ◽  
Multiple Epiphyseal Dysplasia ◽  
Epiphyseal Dysplasia
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