title: Winchester syndrome. A case report and literature review.
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.
authors.affiliation: Department of Dental Diagnostic Science, University of Texas Health Science Center, San Antonio.
authors.forename: S
authors.initials: S
authors.lastname: Prapanpoch
authors.forename: R J
authors.initials: RJ
authors.lastname: Jorgenson
authors.forename: R P
authors.initials: RP
authors.lastname: Langlais
authors.forename: P V
authors.initials: PV
authors.lastname: Nummikoski
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001171:Arthritis, Juvenile / Q000175:diagnosis; D002348:Carpal Bones / Q000002:abnormalities; D003937:Diagnosis, Differential; D005260:Female; D005350:Fibroma / Q000175:diagnosis; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000473:pathology*; D010015:Osteolysis, Essential / Q000175:diagnosis; D011378:Prognathism; D013577:Syndrome; D013639:Tarsal Bones / Q000002:abnormalities; D014071:Tooth Abnormalities