Chromosome 15 in Prader-Willi syndrome / C. N. FEAR in Developmental Medicine & Child Neurology, 27-3 (June 1985)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 27-3 (June 1985) . - p.305-311 Titre : Chromosome 15 in Prader-Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : C. N. FEAR, Auteur ; Victor DUBOWITZ, Auteur ; David E. MUTTON, Auteur ; John Z. HECKMATT, Auteur ; A. C. BERRY, Auteur Année de publication : 1985 Article en page(s) : p.305-311 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Nineteen children with the clinical features of Prader-Willi syndrome were karyotyped, using both routine Giemsa banding and high-resolution techniques. Chromosome abnormalities involving chromosome 15 were found in 10, entirely normal chromosomes in five and for the remaining four the findings were either equivocal or difficult to interpret. There was no clinical distinction between cases with and without the chromosome anomaly. Examination of three parents and a group of controls showed that the proximal end of the long arm of chromosome 15 may have a considerable degree of normal variation, which can make interpretation difficult. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=591 [article] Chromosome 15 in Prader-Willi syndrome [Texte imprimé et/ou numérique] / C. N. FEAR, Auteur ; Victor DUBOWITZ, Auteur ; David E. MUTTON, Auteur ; John Z. HECKMATT, Auteur ; A. C. BERRY, Auteur . - 1985 . - p.305-311. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 27-3 (June 1985) . - p.305-311 Index. décimale : PER Périodiques Résumé : Nineteen children with the clinical features of Prader-Willi syndrome were karyotyped, using both routine Giemsa banding and high-resolution techniques. Chromosome abnormalities involving chromosome 15 were found in 10, entirely normal chromosomes in five and for the remaining four the findings were either equivocal or difficult to interpret. There was no clinical distinction between cases with and without the chromosome anomaly. Examination of three parents and a group of controls showed that the proximal end of the long arm of chromosome 15 may have a considerable degree of normal variation, which can make interpretation difficult. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=591

Prolongation of walking in Duchenne muscular dystrophy with lightweight orthoses: review of 57 cases / John Z. HECKMATT in Developmental Medicine & Child Neurology, 27-2 (April 1985)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 27-2 (April 1985) . - p.149-154 Titre : Prolongation of walking in Duchenne muscular dystrophy with lightweight orthoses: review of 57 cases Type de document : Texte imprimé et/ou numérique Auteurs : John Z. HECKMATT, Auteur ; Victor DUBOWITZ, Auteur ; Sylvia A. HYDE, Auteur ; John FLORENCE, Auteur ; Anne C. GABAIN, Auteur ; Nicola THOMPSON, Auteur Année de publication : 1985 Article en page(s) : p.149-154 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Fifty-seven boys with Duchenne muscular dystrophy aged between 6 years 3 months and 13 years 6 months, who were at the point of losing the ability to walk or had recently done so, were fitted with lightweight knee-ankle-foot orthoses to re-establish walking. 47 walked well and independently in their orthoses, achieving good stability and confidence. 20 are still ambulant; the other 27 stopped walking at intervals ranging from eight to 48 months. Prolongation of walking prevented the development of scoliosis, joint contractures and deformities and also benefited the boys psychologically. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=587 [article] Prolongation of walking in Duchenne muscular dystrophy with lightweight orthoses: review of 57 cases [Texte imprimé et/ou numérique] / John Z. HECKMATT, Auteur ; Victor DUBOWITZ, Auteur ; Sylvia A. HYDE, Auteur ; John FLORENCE, Auteur ; Anne C. GABAIN, Auteur ; Nicola THOMPSON, Auteur . - 1985 . - p.149-154. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 27-2 (April 1985) . - p.149-154 Index. décimale : PER Périodiques Résumé : Fifty-seven boys with Duchenne muscular dystrophy aged between 6 years 3 months and 13 years 6 months, who were at the point of losing the ability to walk or had recently done so, were fitted with lightweight knee-ankle-foot orthoses to re-establish walking. 47 walked well and independently in their orthoses, achieving good stability and confidence. 20 are still ambulant; the other 27 stopped walking at intervals ranging from eight to 48 months. Prolongation of walking prevented the development of scoliosis, joint contractures and deformities and also benefited the boys psychologically. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=587

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