A New Acid Mucopolysaccharidosis With Skeletal Deformities Simulating Rheumatoid Arthritis

Winchester, Patricia; Grossman, Herman; Wn, Lim; Bs, Danes

doi:10.2214/ajr.106.1.121

Cited by 126 publications

(85 citation statements)

References 3 publications

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“…In all but one instances there is parental consanguinity (one child is adopted and parental status unknown). Two sets of affected siblings [4,8] strongly supports autosomal recessive inheritance.…”

Section: Discussionmentioning

confidence: 97%

“…Winchester et al [8] found increased metachromatic staining and elevated levels of intracellular uronic acid in skin fibroblasts. On this basis they believed that the disorder should be clas- sified as an acid mucopolysaccharidosis.…”

Section: Discussionmentioning

confidence: 98%

“…Winchester et al [8] were the first to describe WS in 1969. Since then nine other cases of WS have been reported in the west [2,3,4,5,6,7,8,9].…”

Section: Discussionmentioning

confidence: 99%

“…Since then nine other cases of WS have been reported in the west [2,3,4,5,6,7,8,9]. Onset of the disease is usually within the first year of life.…”

Section: Discussionmentioning

confidence: 99%

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Winchester syndrome

Matthiesen

Pedersen

Hélin

et al. 2001

International Orthopaedics (SICOT)

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Winchester syndrome was first described in 1969 and since then nine patients have been reported in the literature. The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes. The etiology is unknown. Parental consanguinity supports autosomal inheritance. The diagnosis is based on clinical and radiological manifestations. We describe a case in a 7-year-old Pakistani boy.Résumé Le syndrome Winchester a été décrit pour la première fois en 1969 et seulement 9 cas ont été rapporté dans la littérature. Le syndrome est caractérisé par une petite taille, un visage grossier, des opacités cornéennes, une ostéolyse généralisée et des arthropathies douloureuses progressives avec raideur et contractures des phalanges distales en association avec des troubles cutanés. L'étiologie du syndrome est inconnue. La consanguinité parentale est un facteur favorisant. Le diagnostic est basé sur les manifestations cliniques et radiologiques. Nous décrivons un cas chez un garçon pakistanais de 7 ans.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 98%

“…Winchester et al [8] were the first to describe WS in 1969. Since then nine other cases of WS have been reported in the west [2,3,4,5,6,7,8,9].…”

Section: Discussionmentioning

confidence: 99%

“…Since then nine other cases of WS have been reported in the west [2,3,4,5,6,7,8,9]. Onset of the disease is usually within the first year of life.…”

Section: Discussionmentioning

confidence: 99%

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Winchester syndrome

Matthiesen

Pedersen

Hélin

et al. 2001

International Orthopaedics (SICOT)

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“…With the delineation of specific osteolysis syndromes, eponyms were also employed. These included 'Winchester' [2] ,'Torg' [3] and the conjoined eponym is in current use.…”

Section: Introductionmentioning

confidence: 99%

Oro-Dental Manifestations and Implications of the Osteolyses

Chetty¹,

Roberts²,

Stephen³

et al. 2017

JDOC

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The Osteolyses are a group of uncommon genetic disorders which are characterized by progressive resorption of bone. This process ultimately results in significant physical handicap with pathological fractures representing an additional complication. The skeleton in the Osteolyses is radiolucent and the manifestations resemble those of Osteogenesis Imperfecta.A boy with a confirmed diagnosis of Torg-Winchester syndrome attended the metabolic bone clinic at Grey's Hospital and his clinical and radiological features have recently been published [1] . The dental and craniofacial manifestations of this boy form the subject of this article. These features tend to be overshadowed by the more dramatic skeletal changes in the limbs. Nevertheless, appropriate dental care is an important component of the overall management of this severe condition.

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Classification of the Sclerodermoid Genodermatoses

Reed¹

1974

Arch Dermatol

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A New Acid Mucopolysaccharidosis With Skeletal Deformities Simulating Rheumatoid Arthritis

Cited by 126 publications

References 3 publications

Winchester syndrome

Winchester syndrome

Oro-Dental Manifestations and Implications of the Osteolyses

Classification of the Sclerodermoid Genodermatoses

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