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Koslowski's syndrome
Also known as:
Kozlowski's spondylometaphyseal dysplasia syndrome
Koslowsky's type of chondrodysplasia
Koslowski-Maroteaux-Spranger syndrome
Associated persons:
Kazimierz S. Koslowski
Pierre Maroteaux
Jürgen W. Spranger
Description:
Dwarfing skeletal dysplasia in which reduction of growth particularly affects the trunk, which is very short. It is also characterised by waddling gait in early childhood, limited joint mobility, kyphoscoliosis in childhood and adolescence, pectus carcinatum, bowed legs, irregular metaphyses, and occasional hyperopia and genua valga. Adult height 130-165 cm. Radiographic findings show platospondyly, broad and short basilar parts of the iliac. Inheritance is autosomal dominant.
Bibliography:
- K. Koslowski, P. Maroteaux, J. Spranger:
La dysostose spondylométaphysaire.
La presse médicale, Paris, 1967, 75: 2769-2774.
- K. Koslowski, F. A. Beemer, G. Bens, et al:
Spondylometaphyseal dysplasia: report of 7 cases and assay of classification.
In C. J. Papadatos, C. S. Bartsocas (editors): Skeletal Dysplasias. New York, Alan R. Liss, 1982.
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