Open AccessMetatropic dysplasia in four-year-old boy – physiotherapy and orthopaedic care problems – case report
Author(s) -
Jacek Kleszczyński,
Michal Błoch,
Katarzyna Hofbauer,
P Dominiak
Publication year - 2012
Publication title -
ortopedia, traumatologia, rehabilitacja
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.246
H-Index - 22
eISSN - 2084-4336
pISSN - 1509-3492
DOI - 10.5604/15093492.1002258
Subject(s) - medicine , kyphoscoliosis , dysplasia , osteochondrodysplasia , spinal cord compression , hip dysplasia , decompression , complication , ossification , surgery , cord , scoliosis , asymptomatic , orthopedic surgery , spinal cord , physical therapy , radiography , psychiatry
Metatropic dysplasia is a rare skeletal dysplasia caused by a mutation in the VDRL4 gene. Characteristic abnormalities include tubular bones with short diaphyses and wide metaphyses, delayed ossification of the ischio/pubic bone, and platyspondyly. The main problem is progressive kyphoscoliosis, which significantly limits the patient's motor development. Another complication is compression of the cervical spinal cord, which reverses any improvements in the child's motor performance. The paper presents a description of a 4-year-old boy with metatropic dysplasia treated by orthopaedic bracing and spinal cord decompression surgery at the C1-2 level. Particular attention is paid to physiotherapy, which allowed restoration of motor functions to match the needs of daily activity.