Section 62
Chapter 61,964

A new type of spondylo-metaphyseal dysplasia Algerian type

Kozlowski, K.; Bacha, L.; Massen, R.; Ayati, M.; Sator, S.; Brahimi, L.

Pediatric Radiology 18(3): 221-225


ISSN/ISBN: 0301-0449
DOI: 10.1007/bf02390399
Accession: 061963375

A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet.

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