title: [Biochemical and ultrastructural study of two familial cases of Winchester syndrome].
abstract: Two new familial cases of Winchester syndrome with the characteristic features allowed to be more explicit on a few data of this syndrome. As reported in a previous paper an abnormal oligosaccharide was detected in urine of patients but the pathological significance of this oligosaccharide must be discussed and its finding in patients with Winchester syndrome does not lead to further elucidation of the aetiology of this condition. Cultured fibroblasts were obtained from a skin biopsy performed in thickened area. These cells had a normal level of the hydrolases studied whereas they showed ultrastructural abnormalities with numerous secondary lysosomes and pseudomyelinic figures.
authors.affiliation: Unité de Génétique Médicale du CHU de Nice.
authors.forename: J C
authors.initials: JC
authors.lastname: Lambert
authors.forename: J Y
authors.initials: JY
authors.lastname: Jaffray
authors.forename: J C
authors.initials: JC
authors.lastname: Michalski
authors.forename: J P
authors.initials: JP
authors.lastname: Ortonne
authors.forename: V
authors.initials: V
authors.lastname: Paquis
authors.forename: A M
authors.initials: AM
authors.lastname: Saunières
mesh_terms: D002478:Cells, Cultured; D003241:Consanguinity; D006801:Humans; D008247:Lysosomes / Q000648:ultrastructure; D008854:Microscopy, Electron; D009844:Oligosaccharides / Q000652:urine; D010014:Osteolysis / Q000473:pathology*; D010015:Osteolysis, Essential / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D011859:Radiography; D013577:Syndrome
chemical_list: D009844:Oligosaccharides
vernacular_title: Etude biochimique et ultrastructurale de deux cas familiaux de syndrome de Winchester.