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Titolo:
PEHO OR PEHO-LIKE SYNDROME
Autore:
CHITTY LS; ROBB S; BERRY C; SILVER D; BARAITSER M;
Indirizzi:
INST CHILD HLTH,DEPT CLIN GENET,30 GUILFORD ST LONDON WC1N 1EH ENGLAND GUYS HOSP,DEPT PAEDIAT NEUROL LONDON SE1 9RT ENGLAND GUYS HOSP,PAEDIAT RES UNIT LONDON SE1 9RT ENGLAND GUYS HOSP,DEPT PAEDIAT LONDON SE1 9RT ENGLAND HOSP SICK CHILDREN,DEPT CLIN GENET LONDON WC1N 3JH ENGLAND
Titolo Testata:
Clinical dysmorphology
fascicolo: 2, volume: 5, anno: 1996,
pagine: 143 - 152
SICI:
0962-8827(1996)5:2<143:POPS>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
SYNDROME PROGRESSIVE ENCEPHALOPATHY; OPTIC ATROPHY; EDEMA; HYPSARRHYTHMIA; HYPOARRHYTHMIA;
Keywords:
PEHO SYNDROME; EDEMA; PROGRESSIVE ENCEPHALOPATHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
5
Recensione:
Indirizzi per estratti:
Citazione:
L.S. Chitty et al., "PEHO OR PEHO-LIKE SYNDROME", Clinical dysmorphology, 5(2), 1996, pp. 143-152

Abstract

PEHO syndrome is a rare progressive infantile encephalopathy, with variable age of onset of hypotonia, convulsions, mental retardation, oedema, and optic atrophy. Neuroimaging shows cerebellar and brainstem atrophy in most instances. A PEHO-like syndrome has been described in which those affected do not have the typical changes on neuroimaging. Wereport four new cases, two isolated cases and two sisters, who might be part of the PEHO-like syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 09:24:29