James A Swift

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We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid characterization of the phenotype at birth. Because previously reported cases were not(More)
R Zannolli, V Micheli, M A Mazzei, P Sacco, P Piomboni, E Bruni, C Miracco, M M de Santi, P Terrosi Vagnoli, L Volterrani, L Pellegrini, W Livi, B Lucani, S Gonnelli, A B Burlina, G Jacomelli, F Macucci, L Pucci, M Fimiani, J A Swift, M Zappella, G Morgese . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .(More)
We report a 30-year-old woman with hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy (DRE, Lennox-Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia. To the best of our knowledge, this patient has an unusual combination of symptoms not previously described, associated with severe central nervous(More)
OBJECTIVE The objective of this study was to evaluate the cost utility of one year's treatment with a low-dose conjugated estrogen/medroxyprogesterone acetate (CE/MPA low dose) preparation (Premique Low Dose [Wyeth Pharmaceuticals, Maidenhead, UK]), compared with a higher-dose preparation (Premique; CE/MPA [Wyeth Pharmaceuticals, Maidenhead, UK]), in(More)
UNLABELLED Global developmental delay is a serious social problem. It is often unrecognized and the phenotypes are inadequately studied. To investigate the phenotypes of children with aspecific central nervous system (CNS) impairment (poor speech, maladaptive behavioral symptoms such as temper tantrums, aggressiveness, poor concentration and attention,(More)
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