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Titolo:
A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening
Autore:
Ellaway, CJ; Badawi, N; Raffaele, L; Christodoulou, J; Leonard, H;
Indirizzi:
TVW Telethon Inst Child Hlth Res, W Perth, WA 6872, Australia TVW TelethonInst Child Hlth Res W Perth WA Australia 6872 872, Australia Royal Alexandra Hosp Children, Western Sydney Genet Program, Sydney, NSW, Australia Royal Alexandra Hosp Children Sydney NSW Australia ydney, NSW, Australia Univ Sydney, Dept Paediat & Child Hlth, Sydney, NSW 2006, Australia Univ Sydney Sydney NSW Australia 2006 d Hlth, Sydney, NSW 2006, Australia Royal Alexandra Hosp Children, Dept Neonatol, Sydney, NSW, Australia RoyalAlexandra Hosp Children Sydney NSW Australia ydney, NSW, Australia Univ Western Australia, Ctr Child Hlth Res, Perth, WA 6009, Australia UnivWestern Australia Perth WA Australia 6009 Perth, WA 6009, Australia
Titolo Testata:
CLINICAL DYSMORPHOLOGY
fascicolo: 3, volume: 10, anno: 2001,
pagine: 185 - 188
SICI:
0962-8827(200107)10:3<185:ACOMCA>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Keywords:
Rett syndrome; mutation; methyl-CpG binding protein 2; X chromosome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Leonard, H TVW Telethon Inst Child Hlth Res, POB 855, W Perth, WA 6872, Australia TVW Telethon Inst Child Hlth Res POB 855 W Perth WA Australia 6872
Citazione:
C.J. Ellaway et al., "A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening", CLIN DYSMOR, 10(3), 2001, pp. 185-188

Abstract

Rett syndrome (RTT) is a severe neurodevelopmental disorder. Apparently normal at birth, girls,vith RTT undergo developmental regression and acquire a neurological and behavioural phenotype that has been used to define clinical diagnostic criteria for the disorder. Recently mutations in the methyl-CpG binding protein 2 gene (MECP2), located on Xq28 have been identified infemales with RTT. We report a girl whose clinical course was complicated by congenital abnormalities of the respiratory tract and gastrointestinal system. In addition neurological abnormalities were evident in the newborn period. By the age of 3 years she had developed a phenotype very suggestive of RTT, but had not demonstrated deceleration of head growth and the development of expressive language was prevented by the presence of the tracheostomy. The clinical impression of RTT was confirmed by the recent finding of amutation in the MECP2 gene. This case report highlights the importance of considering the clinical diagnosis of RTT even in the presence of other conditions and emphasises that girls with RTT may not be normal from birth. Clin Dysmorphol 10: 185-188 (C) 2001 Lippincott Williams & Wilkins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 18:26:19