A Clinically Diagnosed Case of Multiple Epiphyseal Dysplasia

임상적으로 진단된 다발성 골단이형성증 1례

  • Kim, Sun-Ja (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Jinsup (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Huh, Rimm (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kwun, Younghee (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Jieun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Shim, Jongsup (Department of Orthopedics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Ok-Hwa (Department of Radiology, Ajou University Hospital) ;
  • Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 김선자 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 조성윤 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 김진섭 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 허림 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 권영희 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 이지은 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 심종섭 (성균관대학교 의과대학 삼성서울병원 정형외과) ;
  • 김옥화 (아주대학교 의과대학병원 영상의학과) ;
  • 진동규 (성균관대학교 의과대학 삼성서울병원 소아청소년과)
  • Published : 2015.04.25

Abstract

Multiple epiphyseal dysplasia (MED) is one of the more common skeletal dysplasias. MED is characterized by joint pain and stiffness, a waddling gait, and/or mild short stature in childhood. Radiographic findings include delayed and irregular ossification of the epiphyses in multiple joints. Mutations in at least six different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) can cause MED, and it can be either dominant or recessive inheritance. Molecular diagnosis is important for accurate prognosis and genetic counselling. COMP mutation is the most common form of MED in Western. But, MATN3 mutation was reported as the most common type of MED in Korea. Here, we describe a boy who was diagnosed as MED by clinical and radiological features. Hip radiograph of the patient was suggested MATN3 mutation. But knee radiograph was suggested COMP mutation. MATN3 and COMP mutations direct sequencing, but were no mutation. So we tested whole exome sequencing, but significant variant was not detected as known MED six genes mutations. The patient was diagnosed as having MED clinically and radiologically. Further study to identify the other responsible genes for MED is needed.

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