Congenital myopathy with oculo-facial and skeletal abnormalities / S. David FERGUSON in Developmental Medicine & Child Neurology, 23-2 (April 1981)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 23-2 (April 1981) . - p.237-242 Titre : Congenital myopathy with oculo-facial and skeletal abnormalities Type de document : Texte imprimé et/ou numérique Auteurs : S. David FERGUSON, Auteur ; Ian D. YOUNG, Auteur ; Robert TEOH, Auteur Année de publication : 1981 Article en page(s) : p.237-242 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : A case report is presented of a boy with congenital myopathy associated with oculo-facial and skeletal abnormalities. The relationship of this case to patients with the Schwartz-Jampel and Marden-Walker syndromes is discussed. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=517 [article] Congenital myopathy with oculo-facial and skeletal abnormalities [Texte imprimé et/ou numérique] / S. David FERGUSON, Auteur ; Ian D. YOUNG, Auteur ; Robert TEOH, Auteur . - 1981 . - p.237-242. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 23-2 (April 1981) . - p.237-242 Index. décimale : PER Périodiques Résumé : A case report is presented of a boy with congenital myopathy associated with oculo-facial and skeletal abnormalities. The relationship of this case to patients with the Schwartz-Jampel and Marden-Walker syndromes is discussed. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=517

Disorders of neuronal migration: sonographic features / J. Q. TROUNCE in Developmental Medicine & Child Neurology, 28-4 (August 1986)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 28-4 (August 1986) . - p.467-471 Titre : Disorders of neuronal migration: sonographic features Type de document : Texte imprimé et/ou numérique Auteurs : J. Q. TROUNCE, Auteur ; Ian D. YOUNG, Auteur ; Malcolm I. LEVENE, Auteur ; D. G. FAGAN, Auteur Année de publication : 1986 Article en page(s) : p.467-471 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The cranial ultrasound features of two neonates with neuronal migration disorders are described. One infant had lissencephaly and the other polymicrogyria in conjunction with the Pena-Shokeir syndrome type 1. A third infant is described who was born extremely prematurely and with Down's syndrome, who had similar ultrasound features. By two weeks of age, however, the scan of this third infant had become normal, which illustrates the need for caution in diagnosing migrational disorders in very preterm babies and those with Down's syndrome. The disorders of neuronal migration are discussed. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=615 [article] Disorders of neuronal migration: sonographic features [Texte imprimé et/ou numérique] / J. Q. TROUNCE, Auteur ; Ian D. YOUNG, Auteur ; Malcolm I. LEVENE, Auteur ; D. G. FAGAN, Auteur . - 1986 . - p.467-471. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 28-4 (August 1986) . - p.467-471 Index. décimale : PER Périodiques Résumé : The cranial ultrasound features of two neonates with neuronal migration disorders are described. One infant had lissencephaly and the other polymicrogyria in conjunction with the Pena-Shokeir syndrome type 1. A third infant is described who was born extremely prematurely and with Down's syndrome, who had similar ultrasound features. By two weeks of age, however, the scan of this third infant had become normal, which illustrates the need for caution in diagnosing migrational disorders in very preterm babies and those with Down's syndrome. The disorders of neuronal migration are discussed. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=615

The natural history of the severe form of Hunter's syndrome: a study based on 52 cases / Ian D. YOUNG in Developmental Medicine & Child Neurology, 25-4 (August 1983)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 25-4 (August 1983) . - p.481-489 Titre : The natural history of the severe form of Hunter's syndrome: a study based on 52 cases Type de document : Texte imprimé et/ou numérique Auteurs : Ian D. YOUNG, Auteur ; P. S. HARPER, Auteur Année de publication : 1983 Article en page(s) : p.481-489 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : During a national survey of Hunter's syndrome, 52 boys with the severe form were ascertained. The average ages of onset and death were 2.47 and 11.77 years respectively. Most patients had a large head and short stature. Persistent diarrhoea was noted in 65 per cent of the patients. 76 per cent had an umbilical hernia. Right and left inguinal herniae were noted in 51 and 32 per cent respectively. Evidence of cardiovascular disease was found in 65 per cent of cases; and serious lower respiratory-tract disease occurred in 84 per cent. Induction of anaesthesia proved difficult or impossible in five boys. The disease pattern was dominated by the effects of neurological involvement, with initial developmental delay and behavioural disturbance, followed by regression, with convulsions and pyramidal tract signs. Death was due primarily to this neurodegenerative cachexia, with superimposed respiratory disease. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=567 [article] The natural history of the severe form of Hunter's syndrome: a study based on 52 cases [Texte imprimé et/ou numérique] / Ian D. YOUNG, Auteur ; P. S. HARPER, Auteur . - 1983 . - p.481-489. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 25-4 (August 1983) . - p.481-489 Index. décimale : PER Périodiques Résumé : During a national survey of Hunter's syndrome, 52 boys with the severe form were ascertained. The average ages of onset and death were 2.47 and 11.77 years respectively. Most patients had a large head and short stature. Persistent diarrhoea was noted in 65 per cent of the patients. 76 per cent had an umbilical hernia. Right and left inguinal herniae were noted in 51 and 32 per cent respectively. Evidence of cardiovascular disease was found in 65 per cent of cases; and serious lower respiratory-tract disease occurred in 84 per cent. Induction of anaesthesia proved difficult or impossible in five boys. The disease pattern was dominated by the effects of neurological involvement, with initial developmental delay and behavioural disturbance, followed by regression, with convulsions and pyramidal tract signs. Death was due primarily to this neurodegenerative cachexia, with superimposed respiratory disease. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=567

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