scholarly journals Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report

2010 ◽  
Vol 11 (1) ◽  
Author(s):  
Timo Hinrichs ◽  
Andrea Superti-Furga ◽  
Wolf-Dieter Scheiderer ◽  
Luisa Bonafé ◽  
Rolf E Brenner ◽  
...  
2017 ◽  
Vol 14 (4) ◽  
pp. 515-519 ◽  
Author(s):  
Takashi Yoshida ◽  
Wook-Cheol Kim ◽  
Yoshinobu Oka ◽  
Masashi Nakase ◽  
Atsushi Nishida ◽  
...  

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Changhoon Jeong ◽  
Jae Young Lee ◽  
Jiyeon Kim ◽  
Hyojin Chae ◽  
Hae-il Park ◽  
...  

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Thuong Thi Ho ◽  
Linh Huyen Tran ◽  
Lan Thu Hoang ◽  
Phuong Kim Thi Doan ◽  
Trang Thi Nguyen ◽  
...  

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.


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