Menkes'syndrome (trichopoliodystrophy): use of scanning electron-microscope in diagnosis and carrier identification / C. J. TAYLOR in Developmental Medicine & Child Neurology, 23-3 (June 1981)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 23-3 (June 1981) . - p.361-368 Titre : Menkes'syndrome (trichopoliodystrophy): use of scanning electron-microscope in diagnosis and carrier identification Type de document : Texte imprimé et/ou numérique Auteurs : C. J. TAYLOR, Auteur ; S. H. GREEN, Auteur Année de publication : 1981 Article en page(s) : p.361-368 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Three new cases of Menkes' kinky-hair syndrome are presented. In each case the diagnosis was confirmed biochemically, but light microscopy failed to demonstrate the characteristic hair changes. However, when scanning electron-microscopy was used, pili torti and trichorrhexis nodosa were seen clearly in the samples taken from each case. In addition, monilethrix, a change noted in other reports, was seen to be an optical effect produced at the point of a twist. Hair samples were obtained from female relatives of the three affected families and were similarly examined. Changes indicative of carrier status were observed in two of the three mothers and also in a normal sister and half-sister. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=521 [article] Menkes'syndrome (trichopoliodystrophy): use of scanning electron-microscope in diagnosis and carrier identification [Texte imprimé et/ou numérique] / C. J. TAYLOR, Auteur ; S. H. GREEN, Auteur . - 1981 . - p.361-368. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 23-3 (June 1981) . - p.361-368 Index. décimale : PER Périodiques Résumé : Three new cases of Menkes' kinky-hair syndrome are presented. In each case the diagnosis was confirmed biochemically, but light microscopy failed to demonstrate the characteristic hair changes. However, when scanning electron-microscopy was used, pili torti and trichorrhexis nodosa were seen clearly in the samples taken from each case. In addition, monilethrix, a change noted in other reports, was seen to be an optical effect produced at the point of a twist. Hair samples were obtained from female relatives of the three affected families and were similarly examined. Changes indicative of carrier status were observed in two of the three mothers and also in a normal sister and half-sister. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=521

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