Kleszczyński Jacek, Błoch Michał, Hofbauer Katarzyna, Dominiak Piotr
Division of Physiotherapy in Paediatrics and Neurology, Department of Physiotherapy in Musculoskeletal Dysfunctions, University of Physical Education in Wroclaw.
Ortop Traumatol Rehabil. 2012 May-Jun;14(3):289-302. doi: 10.5604/15093492.1002258.
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.
