NovelCOL2A1Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type
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چکیده
منابع مشابه
Progressive Pseudorheumatoid Dysplasia or JIA?
Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare arthropathy of childhood involving the axial skeleton as well as small peripheral joints. A 10-year-old boy was referred by a general practitioner with pain and deformity in the fingers of hands and limping gait. There was no joint synovitis although the finger joi...
متن کاملSpondyloepiphyseal dysplasia tarda with progressive arthropathy.
Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive skeletal dysplasia affecting primarily the articular cartilage. Here we present a nine-year-old girl from Middle Anatolia (Sivas) with SEDT-PA. Her complaints were pain and progressive deformity of the joints. She had a short stature with increased thoracic kyphosis and lumbar lordosis. The r...
متن کاملProgressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis
BACKGROUND Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo-epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile idiopathic arthritis (JIA), both clinically and radiologically. Early detection and diagnosis of PPD are important in helping to relieve the pain and disability associated with this disease and in avoiding unnecessary investigations and anti-rheumatic int...
متن کاملProgressive pseudorheumatoid dysplasia: report of a family and review.
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 on...
متن کاملProgressive pseudorheumatoid dysplasia: a close mimicker of juvenile idiopathic arthritis.
To cite: Chakraborty PP, Biswas SN, Patra S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2016-214849 DESCRIPTION A girl aged 111⁄2 years was referred to the endocrinology clinic with a provisional diagnosis of short stature secondary to juvenile idiopathic arthritis ( JIA). Born of a consanguineous union, she had presented to her primary care physician...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2015
ISSN: 1059-7794
DOI: 10.1002/humu.22839