Multiple epiphyseal dysplasia - report of two families

Citation
M. Hatori et al., Multiple epiphyseal dysplasia - report of two families, ARCH ORTHOP, 120(7-8), 2000, pp. 372-375
Citations number
17
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Ortopedics, Rehabilitation & Sport Medicine
Journal title
ARCHIVES OF ORTHOPAEDIC AND TRAUMA SURGERY
ISSN journal
0936-8051 → ACNP
Volume
120
Issue
7-8
Year of publication
2000
Pages
372 - 375
Database
ISI
SICI code
0936-8051(200006)120:7-8<372:MED-RO>2.0.ZU;2-J
Abstract
Multiple epiphyseal dysplasia (MED) is a relatively uncommon inherited diso rder of epiphyseal maturation. Affected individuals may have a degree of sh ort-limbed dwarfism, short stubby digits, and stiff or painful joints. We r eport two families of MED and emphasize the variations of joint involvement . Ten out of 34 members in family A and 13 out of 39 members in family B we re suspected of having MED by questionnaire. Radiological examination was d one for 3 out of the 10 members in family A and 6 out of the 13 members in family B. In both families, the epiphyseal disturbances in the skeleton wer e bilaterally symmetric and involved several joints. Apparent dwarfism, sho rt stubby digits and spinal involvement were not observed. The degree and t he pattern of affected joints were different in the two families and even a mong members of the same family. In family A, the knee joint was commonly a ffected, followed by the ankle joint. The deformity of the joints was mild and caused only slight disability. No apparent hip lesion was present. In f amily B, the hip joint was predominantly affected, followed by the knee and ankle joints, and the deformity was severer than that in family A. These o bservations suggest that MED is a group of heterogeneous disorders.