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  • Title: Spinal deformity in short-stature syndromes.
    Author: Tolo VT.
    Journal: Instr Course Lect; 1990; 39():399-405. PubMed ID: 2186130.
    Abstract:
    Although almost any spinal deformity can occur in any skeletal dysplasia, there are specific spinal problems in each disorder that require periodic assessment and a particular awareness. Atlantoaxial instability frequently accompanies spondyloepiphyseal dysplasia congenita and Morquio's syndrome. Severe progressive kyphoscoliosis is found in diastrophic dysplasia. Although scoliosis can be found in many of these syndromes to some degree, it is very rare in achondroplasia. The most common deformity found in skeletal dysplasias as a whole seems to be kyphosis: cervical kyphosis in diastrophic dysplasia and thoracolumbar kyphosis in achondroplasia, pseudoachondroplasia, and many of the short-stature syndromes of metabolic etiology. Spinal stenosis is extremely common in achondroplasia, both at the lumbar and cervical areas. It is important to establish the correct diagnosis early so that the orthopaedist is able to focus on the areas at highest risk of developing spinal problems, and proceed with efficacious and timely treatment.
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