Punctate Epiphyseal Dysplasia

Multiple epiphyseal dysplasia

BACKGROUND Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia characterized by early-onset osteoarthritis, mainly in the hip and knee, and mild-to-moderate short stature. Here we report on a 6-generation MED family with 17 affected members. METHOD The clinical and radiographic data on the 12 affected members still living were scrutinize...

Multiple epiphyseal dysplasia.

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 ...

Perthes' disease and multiple epiphyseal dysplasia.

Five atypical cases were observed amongst ninety children with Perthes' disease, ten of whom had bilateral hip joint involvement. All five were boys, four being under 4 years of age. Four had bilateral hip joint disease, four presented with hip pain, three showing some degree of retardation of bone growth. In one case the hip disorder was familial, and in four there were bony abnormalities else...

6.4 Spondylo-epiphyseal dysplasia – a physiotherapy approach

Materials and methods A retrospective review was completed on 6 cases of SED. All physiotherapy assessments of joint range of movement, muscle strength, balance and gait were included. The physiotherapy programme included stretches to restricted joints and a progressive resisted strengthening programme (high repetitions and low resistance weights) completed into the full range of movement of mo...

A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2).