title: Metatropic dysplasia in four-year-old boy--physiotherapy and orthopaedic care problems--case report.
abstract: 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.
authors: Division of Physiotherapy in Paediatrics and Neurology, Department of Physiotherapy in Musculoskeletal Dysfunctions, University of Physical Education in Wroclaw. teofrastus@wp.pl
authors: Jacek
authors: J
authors: Kleszczyński
authors: Michał
authors: M
authors: Błoch
authors: Katarzyna
authors: K
authors: Hofbauer
authors: Piotr
authors: P
authors: Dominiak
mesh_terms: D001915:Braces; D002574:Cervical Vertebrae / Q000601:surgery*; D002675:Child, Preschool; D019299:Decompression, Surgical / Q000379:methods*; D004392:Dwarfism / Q000628:therapy*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000628:therapy*; D016896:Treatment Outcome