Platyspondyly, polyarticular osteoarthritis, and absent β‐2‐globulin in two brothers

Frcp, John R. Martin; Frcp, D. W. Macewan; Blais, J.; Metrakos, Julius D.; Gold, Phil; Länger, F; Hill, R.

doi:10.1002/art.1780130106

Cited by 5 publications

(1 citation statement)

References 16 publications

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“…Late-onset forms of MED have also been described (32). as well as late-onset, overlap forms of SED and MED that do not fit easily into either category (33)(34)(35)(36). We believe that the family described here is best classified as having a late-onset, overlap form of SED and MED.…”

Section: Discussionmentioning

confidence: 80%

Early‐onset primary osteoarthritis and mild chondrodysplasia

Katzenstein

Malemud

Pathria

et al. 1990

Arthritis & Rheumatism

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Three generations of a nonconsanguineous family with premature onset of primary (idiopathic) osteoarthritis (OA) were studied for clues to the etiopathogenesis of their disorder. Articular symptoms began in their second and third decades of life and involved multiple joints, both typical and atypical for primary OA. Radiographs of the majority of involved peripheral joints showed abnormalities typical of primary OA. Evidence of chondrodysplasia was found in the spines. Pathologic examination of femoral heads obtained at total hip arthroplasty from 3 affected family members showed moderate to severe OA. Articular cartilage proteoglycans from these specimens were evaluated for aggregatability with hyaluronic acid, levels of chondroitin sulfate and keratan sulfate, and core protein structure. The results from each patient's specimen differed from the results of the other specimens. We conclude that this family's disorder, primary OA associated with a mild

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Section: Discussionmentioning

confidence: 80%

Early‐onset primary osteoarthritis and mild chondrodysplasia

Katzenstein

Malemud

Pathria

et al. 1990

Arthritis & Rheumatism

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Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: A possible error of chondroitin‐6‐sulfate synthesis

Toledo

Lamego

et al. 1978

Am. J. Med. Genet.

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Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low-normal UBS: LBS ratio, and peripheral corneal punctate opacities only seen by the slitlamp. Normal mental status was present. Typical metachromatic granules were not seen either in bone-marrow cells or in peripheral blood cells. The X-ray picture showed spondylar and pelvic dysplasia. Qualitative rather than quantitative anomalies were shown in the urinary mucopolysaccharides, mostly involving chondroitin-6-sulfate. The genetic data are consistent with autosomal recessive inheritance.

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