[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: J C Lambert, J Y Jaffray, J C Michalski, J P Ortonne, V Paquis, A M Saunières
• Journal: Journal de genetique humaine (J Genet Hum) Vol. 37 Issue 3 Pg. 231-6 (Sep 1989) ISSN: 0021-7743 [Print] Switzerland
• Vernacular Title: Etude biochimique et ultrastructurale de deux cas familiaux de syndrome de Winchester.
• PMID: 2625626 (Publication Type: Journal Article)

Chemical References

• Oligosaccharides

Topics

• Cells, Cultured
• Consanguinity
• Humans
• Lysosomes (ultrastructure)
• Microscopy, Electron
• Oligosaccharides (urine)
• Osteolysis (pathology)
• Osteolysis, Essential (diagnostic imaging, genetics, pathology)
• Radiography
• Syndrome