Winchester syndrome. A case report and literature review

Oral Surg Oral Med Oral Pathol. 1992 Nov;74(5):671-7. doi: 10.1016/0030-4220(92)90363-u.

Abstract

The mucopolysaccharidoses are a group of inherited lysosomal storage diseases that are caused by a deficiency of specific enzymes. The acid mucopolysaccharides are stored in tissue and excreted in large quantities in the urine. The storage of this material leads to effects on a wide variety of tissues and to remarkable changes in morphologic features. Winchester syndrome is a rare disorder in the group of mucopolysaccharidoses. This article is a report of a case with classic clinical, radiologic, and biochemical characteristics of the Winchester syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Arthritis, Juvenile / diagnosis
  • Carpal Bones / abnormalities
  • Diagnosis, Differential
  • Female
  • Fibroma / diagnosis
  • Growth Disorders / diagnosis
  • Humans
  • Mucopolysaccharidoses / diagnosis
  • Mucopolysaccharidoses / pathology*
  • Osteolysis, Essential / diagnosis
  • Prognathism
  • Syndrome
  • Tarsal Bones / abnormalities
  • Tooth Abnormalities*