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Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes

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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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Authors and Affiliations

  1. Ambulant Centre for Defects of the Locomotor Apparatus, Prague, Czech Republic

    Ivo Marik, Olga Marikova, Dana Zemkova & Miroslav Kuklik

  2. Department of Anthropology and Human Genetics, The Faculty of Science, Charles University, Prague, Czech Republic

    Olga Marikova

  3. Second Paediatric Clinic, Motol Teaching Hospital, Prague, Czech Republic

    Dana Zemkova

  4. Department of Medical Imaging, The Children’s Hospital at Westmead, Locked Bag 4001, NSW 2145, Sydney, Australia

    Kazimierz Kozlowski

Authors
  1. Ivo Marik
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  2. Olga Marikova
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  3. Dana Zemkova
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  4. Miroslav Kuklik
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  5. Kazimierz Kozlowski
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Corresponding author

Correspondence to Kazimierz Kozlowski.

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Marik, I., Marikova, O., Zemkova, D. et al. Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. Skeletal Radiol 33, 157–164 (2004). https://doi.org/10.1007/s00256-003-0708-z

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  • DOI: https://doi.org/10.1007/s00256-003-0708-z

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