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Ehlers-Danlos syndrome type VIII and leukodystrophy

✍ Scribed by Spranger, Stephanie; Spranger, Matthias; Kirchhof, Klaus; Steinmann, Beat

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 205 KB
Volume: 66
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961211)66:2<239::aid-ajmg23>3.0.co;2-t

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✦ Synopsis

Ehlers-Danlos syndrome type VIII (EDS VIII) is a rare disorder of unknown cause inherited in an autoso-ma1 dominant mode. Specific alterations in the synthesis or secretion of collagens I and 111, or ultrastructural abnormalities of skin fibroblasts and extracellular matrix, have not been demonstrated [Dyne et al., 19931. The collagen bundle architecture appears normal [Hollister, 19821. Diagnosis is based on clinical findings including early periodontal disease, ecchymotic pretibial lesions, minimal bruising, and premature aging [

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