Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

1998 ◽  
Vol 7 (3) ◽  
pp. 177-184 ◽  
Author(s):  
L I AL-Gazali ◽  
D Bakalinova
Keyword(s):  
Autosomal Recessive ◽  
Multiple Epiphyseal Dysplasia ◽  
Facial Appearance ◽  
Epiphyseal Dysplasia

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in theDTDSTgene: Double-layer patella as a reliable sign

2003 ◽  
Vol 122A (3) ◽  
pp. 187-192 ◽  
Author(s):  
Outi Mäkitie ◽  
Ravi Savarirayan ◽  
Luisa Bonafé ◽  
Stephen Robertson ◽  
Miki Susic ◽  
...  
Keyword(s):  
Double Layer ◽  
Autosomal Recessive ◽  
Multiple Epiphyseal Dysplasia ◽  
Epiphyseal Dysplasia ◽  
Reliable Sign

scholarly journals RECESSIVE MULTIPLE EPIPHYSEAL DYSPLASIA: A CASE REPORT

2019 ◽  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Multiple Epiphyseal Dysplasia ◽  
Long Bones ◽  
Dominant Type ◽  
Cartilage Development ◽  
Bone And Cartilage Development ◽  
Epiphyseal Dysplasia ◽  
And Cartilage ◽  
Difficulty Walking

Multiple epiphyseal dysplasia (MED) is characterized by abnormal bone and cartilage development particularly affecting epiphysis of long bones. Individuals with MED present during childhood presents with hip pain, knee pain and waddling gait. The autosomal recessive MED is differentiated from the dominant type by the presence of hands, knees and feet malformations with scoliosis. We present here, a case of autosomal recessive MED, an eleven and half years old boy who presented with pain in knees, difficulty walking, abnormal fingers and abnormal toes. The radiographs of hands, knees and pelvis were suggestive of an abnormal epiphyseal development. After diagnosis, patient was counseled and he was advised analgesics and different exercises.

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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