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Skeletal Radiology

Erschienen in:

01.03.2004 | Article

Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes

verfasst von: Ivo Marik, Olga Marikova, Dana Zemkova, Miroslav Kuklik, Kazimierz Kozlowski

Erschienen in: Skeletal Radiology | Ausgabe 3/2004

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Abstract

Objective

To present four related patients with progressive pseudorheumatoid dysplasia (PPsRD) each with distinctive history, unique phenotype and some peculiar radiographic findings.

Results and conclusions

The history was characterised by weather-dependent articular pain. The unique phenotypic features were hypoplasia/dysplasia of one or two toes. Peculiar radiographic findings were hypoplasia of the 3rd and 4th metatarsals, platyspondyly with rectangular shape of the lumbar spinal canal, progressive narrowing of the joint spaces and early synovial chondromatosis. Finally, the condition was inherited as a dominant trait. This constellation of abnormalities constitutes a distinct form of PPsRD. PPsRD must be differentiated from other bone dysplasias, specifically spondyloepiphyseal dysplasias, autosomal dominant spondylarthropathy, juvenile rheumatoid arthritis and osteoarthritis.

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Titel: Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes
verfasst von: Ivo Marik
Olga Marikova
Dana Zemkova
Miroslav Kuklik
Kazimierz Kozlowski
Publikationsdatum: 01.03.2004
Verlag: Springer-Verlag
Erschienen in: Skeletal Radiology / Ausgabe 3/2004
Print ISSN: 0364-2348
Elektronische ISSN: 1432-2161
DOI: https://doi.org/10.1007/s00256-003-0708-z

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Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes

Abstract

Objective

Results and conclusions

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Springer Medizin

Abstract

Objective

Results and conclusions

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