RECESSIVE MULTIPLE EPIPHYSEAL DYSPLASIA: A CASE REPORT

被引:0
|
作者
Bin Ayaz, Saeed [1 ]
Rauf, Saima [1 ]
Ayaz, Fatima [2 ]
机构
[1] Combined Mil Hosp Quetta & Quetta Inst Med Sci, Dept Rehabil Med, Quetta 87300, Balochistan, Pakistan
[2] Holy Family Hosp, Internal Med, Rawalpindi, Pakistan
来源
关键词
Epiphyseal Dysplasia; Knee Pain; Waddling Gait; Clinodactyly;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:104 / 106
页数:3
相关论文
共 50 条
  • [21] NEW AUTOSOMAL RECESSIVE SPONDYLO-EPIPHYSEAL DYSPLASIA
    RAMIREZ, ML
    HERNANDEZ, A
    NAZARA, Z
    CANTU, JM
    REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 1979, 31 (01): : 105 - 105
  • [22] HEREDITY AND MULTIPLE EPIPHYSEAL DYSPLASIA
    JUBERG, RC
    JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1977, 237 (24): : 2600 - 2600
  • [23] MULTIPLE EPIPHYSEAL DYSPLASIA AND ARTHRITIS
    PATRONE, NA
    KREDICH, DW
    AYLSWORTH, AS
    CLINICAL RESEARCH, 1983, 31 (02): : A654 - A654
  • [24] THE SHOULDER IN MULTIPLE EPIPHYSEAL DYSPLASIA
    INGRAM, RR
    JOURNAL OF BONE AND JOINT SURGERY-BRITISH VOLUME, 1991, 73 (02): : 277 - 279
  • [25] MULTIPLE EPIPHYSEAL DYSPLASIA (FAIRBANK)
    CURRARIN.G
    SEMINARS IN ROENTGENOLOGY, 1973, 8 (02) : 170 - 171
  • [26] OSTEOPETROSIS WITH MULTIPLE EPIPHYSEAL DYSPLASIA
    PALMER, PES
    BRITISH JOURNAL OF RADIOLOGY, 1960, 33 (391): : 455 - 457
  • [27] Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasia presenting with repetitive joint pain in children
    Kizilkaya, Volkan
    Engin, Sami
    Tunc, Ali
    Tonbul, Alparslan
    INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS, 2023, 106
  • [28] Case report: Spondylo-epiphyseal dysplasia tarda.
    Botea, V
    Reddy, M
    Edelson, G
    JOURNAL OF BONE AND MINERAL RESEARCH, 2001, 16 : S557 - S557
  • [29] Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report
    Changhoon Jeong
    Jae Young Lee
    Jiyeon Kim
    Hyojin Chae
    Hae-il Park
    Myungshin Kim
    Ok-Hwa Kim
    Paul Kim
    Young Kee Lee
    Jongsun Jung
    BMC Musculoskeletal Disorders, 15
  • [30] Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report
    Jeong, Changhoon
    Lee, Jae Young
    Kim, Jiyeon
    Chae, Hyojin
    Park, Hae-il
    Kim, Myungshin
    Kim, Ok-Hwa
    Kim, Paul
    Lee, Young Kee
    Jung, Jongsun
    BMC MUSCULOSKELETAL DISORDERS, 2014, 15