Journal article
Progressive pseudorheumatoid dysplasia: report of a family and review
Journal of medical genetics, Vol.34(7), pp.559-563
07/1997
DOI: 10.1136/jmg.34.7.559
PMCID: PMC1050995
PMID: 9222963
Abstract
Progressive pseudorheumatoid dysplasia is an inherited skeletal dysplasia with radiographic changes notably in the spine, similar to spondyloepiphyseal dysplasia tarda. There is also articular cartilage involvement which gives it some clinical resemblance to rheumatoid arthritis. We report here on six subjects from one inbred family from Jordan. Based on previously published reports and this one, we review the clinical and radiological features and discuss the genetics and differential diagnosis of the disorder. We suggest the addition of the word "spondyloepiphyseal" to the name adopted by the International Working Group on Constitutional Diseases of Bone, to become "progressive pseudorheumatoid spondyloepiphyseal dysplasia". We also speculate on candidate genes for this disorder.
Details
- Title: Subtitle
- Progressive pseudorheumatoid dysplasia: report of a family and review
- Creators
- H E el-Shanti - Department of Paediatrics, School of Medicine, Jordan University of Science and Technology, Irbid, JordanH Z OmariH I Qubain
- Resource Type
- Journal article
- Publication Details
- Journal of medical genetics, Vol.34(7), pp.559-563
- DOI
- 10.1136/jmg.34.7.559
- PMID
- 9222963
- PMCID
- PMC1050995
- NLM abbreviation
- J Med Genet
- ISSN
- 0022-2593
- eISSN
- 1468-6244
- Language
- English
- Date published
- 07/1997
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093347802771
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