Multiple epiphyseal dysplasia.
نویسندگان
چکیده
Fig. 5 : x-ray hand showing bilateral small fifth metacarpals, small right fourth metacarpal, and degeneration of distal epiphysis and interphalangeal joints Fig. 6 : Foot x-ray showing degenerated joints, shortening of fourth and fifth metatarsals with degenerated distal epiphysis Fig. 7 : MRI showing degenerative disc disease with spinal cord compression involving cervical, lumber and dorsal vertebrae
منابع مشابه
Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
104 introDuCtion Multiple epiphyseal dysplasia (MED; EDM1, OMIM 132400; EDM2, OMIM 600204; EDM3, OMIM 600969; EDM4, OMIM 226900; EDM5, OMIM 607078; EDM6, OMIM 614135) is an autosomal dominant inherited disease of the skeletal system, characterized by mild short stature and early‐onset degenerative joint disease, caused by heterogeneous genotypes involving more than six genes (COMP, COL9A1, COL9...
متن کاملAutosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
Multiple epiphyseal dysplasia is caused by heterogeneous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Kore...
متن کاملArthroscopic decompression and notchplasty for long-standing anterior cruciate ligament impingement in a patient with multiple epiphyseal dysplasia: a case report
INTRODUCTION Multiple epiphyseal dysplasia is a genetically and clinically heterogeneous osteochondroplasia with symmetrical involvement. It is characterized by joint pain in childhood and early adulthood with early onset of osteoarthritis, mainly affecting the hips. CASE PRESENTATION We report the case of a 20-year-old man of Asian origin with multiple epiphyseal dysplasia presenting with bi...
متن کاملMultiple epiphyseal dysplasia in children: beware of overtreatment!
PURPOSE To determine the various musculoskeletal manifestations of multiple epiphyseal dysplasia in children, and the course of this disease in childhood. METHODS Ten children were diagnosed and treated at the Children's Hospital of Eastern Ontario (CHEO) for multiple epiphyseal dysplasia, 1976-2001. We reviewed the clinical, pathological and radiographic records for these cases to determine ...
متن کاملA mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
BACKGROUND We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26. METHODS In this manuscript, we have used whole exome sequencing on two affected members of a consanguineous family with this condition and carried out detailed bioinformatics analysis t...
متن کاملDevelopment of the hip in multiple epiphyseal dysplasia. Natural history and susceptibility to premature osteoarthritis.
We have determined the natural history of hip development in 42 patients with multiple epiphyseal dysplasia (MED). Premature osteoarthritis was a frequent outcome and was almost inevitable before the age of 30 years in those with incongruent hips. There were two types of immature hips: type I, the more severe form, had a fragmented and flattened ossific nucleus and acetabular dysplasia, was mis...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 61 6 شماره
صفحات -
تاریخ انتشار 2013